Course : ACMG Genomics Case Conference November 2017

Proceeding from the Non-Diagnostic Exome: Cases from the Stanford Site of the Undiagnosed Diseases Network
Hosted by Stanford University School of Medicine

Click Launch for details.

Course Description

In this presentation we will review recent cases from the Stanford site of the Undiagnosed Diseases Network in which clinical exome sequencing was initially non-diagnostic and how additional laboratory evaluation or data reanalysis resulted in a confirmed molecular diagnosis.

Target audience

a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credits

Course Information with Educational Credit Please Click Here

Date of Release: November 15, 2017
Expiration Date: November 25, 2020
Estimate Time of Completion: 1 hour
Course must be completed by the expiration date

For references, click the “Hammer & Wrench” icon at the top of the page.

Registration and Fees

ACMG Members and ACMG Trainees with no educational credits free
ACMG Member and ACMG Trainees with educational credits ($15)
Non-members with no educational credits ($30)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1. Recognize classes of single nucleotide variants more likely to be misclassified as benign or of uncertain significance.
2. Describe clinical findings suggestive of the presence of mosaicism and initiate molecular testing to confirm such a diagnosis.
3. Contrast the strengths and limitations of available methods for detecting clinically important structural variants.

  Purchase with Educational Credit

Purchase without Educational Credits