Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001180347 | SCV001345257 | likely benign | Hereditary cancer-predisposing syndrome | 2019-03-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001459357 | SCV001663196 | likely benign | Peutz-Jeghers syndrome | 2020-03-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001180347 | SCV002691093 | likely benign | Hereditary cancer-predisposing syndrome | 2021-10-21 | 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. |
Center for Genomic Medicine, |
RCV003493810 | SCV004242944 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |