Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468247 | SCV000560345 | likely benign | Birt-Hogg-Dube syndrome | 2022-12-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010548 | SCV001170768 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-20 | 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. |