Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000249016 | SCV000307962 | benign | not specified | 2015-12-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000249016 | SCV000519389 | benign | not specified | 2016-02-08 | 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. |
Invitae | RCV002058056 | SCV002407097 | benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000249016 | SCV003929233 | benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000249016 | SCV001921719 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000249016 | SCV001956031 | benign | not specified | no assertion criteria provided | clinical testing |