Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000538277 | SCV000622934 | likely benign | Gorlin syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013228 | SCV001173785 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-20 | 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, |
RCV001013228 | SCV002526822 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-14 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478090 | SCV004219165 | benign | not provided | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004553158 | SCV004775914 | likely benign | PTCH1-related disorder | 2020-02-17 | 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). |