Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000473750 | SCV000545682 | likely benign | Myofibrillar myopathy 4 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001810949 | SCV002047832 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418366 | SCV002722167 | likely benign | Cardiovascular phenotype | 2019-03-01 | 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. |
Fulgent Genetics, |
RCV002489025 | SCV002797449 | likely benign | Dilated cardiomyopathy 1C; Myofibrillar myopathy 4 | 2021-08-11 | criteria provided, single submitter | clinical testing |