Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542736 | SCV000651069 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002350344 | SCV002646587 | likely benign | Cardiovascular phenotype | 2022-01-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Revvity Omics, |
RCV001796115 | SCV003833167 | uncertain significance | not provided | 2022-01-25 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001796115 | SCV002035792 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001796115 | SCV002037538 | likely benign | not provided | no assertion criteria provided | clinical testing |