Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000122997 | SCV000166292 | benign | Gorlin syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574920 | SCV000674548 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-05 | 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. |
Gene |
RCV001719893 | SCV000716391 | likely benign | not provided | 2018-11-15 | criteria provided, single submitter | clinical testing |