Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039625 | SCV000063314 | likely benign | not specified | 2010-02-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001297121 | SCV001486107 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001297121 | SCV001796286 | likely benign | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002513552 | SCV003721216 | likely benign | Inborn genetic diseases | 2021-12-17 | 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. |