Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703534 | SCV000515550 | likely benign | not provided | 2019-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001476109 | SCV001680313 | likely benign | Familial melanoma | 2023-07-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002436256 | SCV002750522 | likely benign | Hereditary cancer-predisposing syndrome | 2019-08-21 | 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. |