Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707251 | SCV000836341 | likely benign | Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001731901 | SCV001983353 | likely benign | not provided | 2021-03-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424724 | SCV002729179 | likely benign | Cardiovascular phenotype | 2024-02-22 | 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, |
RCV001731901 | SCV003833168 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001731901 | SCV004224105 | uncertain significance | not provided | 2023-01-12 | criteria provided, single submitter | clinical testing | BS2 |