Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000641849 | SCV000763499 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-08-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002424441 | SCV002681283 | likely benign | Cardiovascular phenotype | 2020-01-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Ce |
RCV003437357 | SCV004163059 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | DSP: PM2:Supporting, BP4, BP7 |