Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

ABSTRACT:

Importance

Discordance in the interpretations of genetic test results has occurred with the increased number of laboratories that are performing testing. Differences in diagnostic interpretations may have implications for the treatment of patients.

Objective

To assess the interlaboratory variation in the interpretations of genetic test results with potential therapeutic implications.

Design, setting, and participants

In this cross-sectional study, 70 genes that are commonly tested in patients with epilepsy were examined to identify 22 676 genetic variants from an unknown number of patients using the ClinVar public database of clinically annotated variants. Variant annotations submitted to ClinVar (data set version 2019-05) between November 16, 2012, and May 3, 2019, w

SUBMITTER: SoRelle JA 

PROVIDER: S-EPMC7191323 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature