Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250808 | SCV000307928 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250808 | SCV000521448 | benign | not specified | 2016-03-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Center for Pediatric Genomic Medicine, |
RCV000514366 | SCV000609778 | benign | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002058049 | SCV002402729 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250808 | SCV004038068 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000514366 | SCV004564069 | benign | not provided | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000514366 | SCV005267196 | benign | not provided | criteria provided, single submitter | not provided | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000514366 | SCV001799907 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000250808 | SCV001920352 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000250808 | SCV001931592 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000250808 | SCV001951305 | benign | not specified | no assertion criteria provided | clinical testing |