Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666555 | SCV000790863 | likely benign | Alstrom syndrome | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000666555 | SCV001096562 | likely benign | Alstrom syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163060 | SCV003857277 | likely benign | Cardiovascular phenotype | 2022-12-17 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003226353 | SCV003923074 | likely benign | not specified | 2023-03-06 | criteria provided, single submitter | clinical testing |