Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250292 | SCV000307969 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250292 | SCV000522879 | benign | not specified | 2016-03-02 | 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 | RCV002058058 | SCV002494002 | 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 | |
Ce |
RCV001795444 | SCV003917564 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | FLNC: BS1, BS2 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000250292 | SCV003929242 | benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001795444 | SCV004564751 | benign | not provided | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000250292 | SCV001921703 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000250292 | SCV001930540 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795444 | SCV002036539 | likely benign | not provided | no assertion criteria provided | clinical testing |