Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667289 | SCV000791718 | likely benign | Alstrom syndrome | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667289 | SCV001623581 | likely benign | Alstrom syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369799 | SCV002687465 | likely benign | Cardiovascular phenotype | 2021-05-06 | 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. |