Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422534 | SCV000534096 | benign | not specified | 2017-01-06 | 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 | RCV001080257 | SCV000651027 | 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 | |
Athena Diagnostics | RCV000711686 | SCV000842073 | benign | not provided | 2018-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002328991 | SCV002630892 | benign | Cardiovascular phenotype | 2018-12-26 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422534 | SCV003929249 | benign | not specified | 2023-04-17 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486842 | SCV004240649 | benign | Cardiomyopathy | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000422534 | SCV001921560 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000422534 | SCV001967983 | benign | not specified | no assertion criteria provided | clinical testing |