Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205069 | SCV000261033 | likely benign | Gorlin syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000492747 | SCV000580996 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-13 | 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. |
Gene |
RCV001711981 | SCV001942749 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000492747 | SCV002535178 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-12 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001711981 | SCV004219260 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004547491 | SCV004757967 | likely benign | PTCH1-related disorder | 2022-04-06 | 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). |