Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518163 | SCV001726812 | benign | Arrhythmogenic right ventricular dysplasia 13 | 2022-10-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000467723 | SCV002005985 | likely benign | not provided | 2020-06-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418464 | SCV002722092 | likely benign | Inborn genetic diseases | 2022-05-11 | 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. |