Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000651059 | SCV000772908 | likely benign | Cowden syndrome 6 | 2022-09-15 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000651059 | SCV000838932 | benign | Cowden syndrome 6 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002343370 | SCV002649603 | likely benign | Inborn genetic diseases | 2022-04-12 | 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. |