Annual Clinical Genetics Meeting (ACMG)

April 2 - 6  |  Seattle, WA


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Scientific Posters

Poster # Abstract Poster# 339

Thursday, April 4, 2019 10:00 - 11:30am

Zöe Powis, Kirsten Blanco, Julie Stefka, Kelly Farwell Hagman, Sha Tang. Clinical Diagnostic Exome Sequencing in Patients with Neuromuscular Disorders: Genetic Testing Challenges for Complex Conditions.

Poster # 305

Thursday, April 4, 2019 10:00 - 11:30am

Michelle Ernst, C. Working Group, Zöe Powis. CSNK2B: A Novel Cause of Neurodevelopmental Disease and Epilepsy.

Poster # Abstract Poster# 289

Thursday, April 4, 2019 10:00 - 11:30am

Nancy Niguidula, Jill Dolinsky, Benjamin Feldmann, Illa Hadzimehmedagic, Greg Nogle, Carrie Horton, Tami Johnston, Heather Zimmermann, Zöe Powis. Discrepancies in Payer Coverage and Practice Guidelines for Genetic Testing of ACMG Cardiovascular Genes.

Poster # Abstract Poster# 715

Thursday, April 4, 2019 10:00 - 11:30am

Catherine Schultz, Kirsten Blanco, Zöe Powis, Shoji Ichikawa. Has Anything Changed? Reclassification of Epilepsy Genetic Variants.

Poster # Abstract Poster# 185

Thursday, April 4, 2019 10:00 - 11:30am

Carrie Horton, Marcy Richardson, Min-Sun Park, Michael Anderson, Huma Rana. Join the paraGANGlioma - More support for FH in hereditary PGL-PCC.

Poster # Abstract Poster# 719

Thursday, April 4, 2019 10:00 - 11:30am

Meghan Towne, Brian Schoenfeld, Kirsten Blanco, Sha Tang, Kelly Radtke, Kelly Farwell Hagman, Deepali Shinde. N of One” Is the Loneliest Number: How a Lack of Corroborating Case Reports is Hindering the Classification of Genes.

Poster # Abstract Poster# 167

Thursday, April 4, 2019 10:00 - 11:30am

Rachid Karam, Kate Krempely, Marcy Richardson, Kelly McGoldrick, Blair R. Conner, Tyler Landrith, Kyle Allen, Amal Yussuf, Huma Rana, Samantha Culver, John Lee, Sarah Nashed, Deborah Toppmeyer, Debra Collins, Ginger Haynes, Tina Pesaran, Holly LaDuca, Jill Dolinsky, Elizabeth Chao. RNA Genetic Testing in Hereditary Cancer Improves Variant Classification and Patient Management.

Poster # Abstract Poster# 181

Thursday, April 4, 2019 10:00 - 11:30am

Deborah I. Ritter, Carrie Horton, Kelly McGoldrick, Tina Pesaran. VHL Information Sharing International Consortium (VISION): A ClinGen Expert Panel to Evaluate VHL Gene-Specific Criteria for Variant Interpretation.

Poster # Abstract Poster# 422

Friday, April 5, 2019 10:30 - 12:00pm

Sheila Saliganan, Stephanie Brooks, Meghan Towne, Kirsten Blanco, Zöe Powis, Kelly Radtke, Nancy Kramer, Kelly Farwell. An Analysis of Clinical Documentation Submitted with Diagnostic Exome Sequencing Orders and the Added Burden or Benefit of Insurance Billing.

Poster # Abstract Poster# 692

Friday, April 5, 2019 10:30 - 12:00pm

Jennifer Huang, Christina L. Alamillo, Zöe Powis, Sha Tang, Kelly Farwell Hagman. By the Way: The Incidental Benefit of Exome Sequencing to Enable Life-Saving Intervention via Secondary Findings.

Poster # Abstract Poster# 614

Friday, April 5, 2019 10:30 - 12:00pm

Mary Helen Black, Stephanie Gutierrez, Shuwei Li, Jill Dolinsky, Jessica Profato, Holly LaDuca. Lifetime Risk of Breast Cancer from Polygenic Risk Scores Combined with Clinical Assessment in Women Referred for Genetic Testing.

Oral Presentations

Session # Abstract Presenation# 650

Wednesday, April 3, 2019 1:15 - 1:30pm

Kelly Radtke. Three-quarters of Upgraded Negative Reports Due to Reclassification are Due to Lab-initiated Proactive Reanalysis

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