Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226758 | SCV000284317 | benign | Gorlin syndrome | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566146 | SCV000674463 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-04 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Sema4, |
RCV000566146 | SCV002526821 | benign | Hereditary cancer-predisposing syndrome | 2021-05-28 | criteria provided, single submitter | curation | |
Prevention |
RCV004547582 | SCV004767750 | likely benign | PTCH1-related disorder | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |