Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000229152 | SCV000289619 | likely benign | Myofibrillar myopathy 4 | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001337050 | SCV001530611 | uncertain significance | Dilated cardiomyopathy 1C | 2018-12-13 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV002411052 | SCV002712159 | likely benign | Cardiovascular phenotype | 2019-05-20 | 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. |