Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001404121 | SCV001606011 | likely benign | Alstrom syndrome | 2023-09-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003382574 | SCV004097521 | likely benign | Cardiovascular phenotype | 2023-09-05 | 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. |
Natera, |
RCV001404121 | SCV002082854 | likely benign | Alstrom syndrome | 2021-08-06 | no assertion criteria provided | clinical testing |