Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000566140 | SCV000673442 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-28 | 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. |
Invitae | RCV000635590 | SCV000757009 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001311877 | SCV001502228 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | FLCN: BP4, BP7 |