Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000167930 | SCV000218578 | likely benign | Gorlin syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697111 | SCV000524415 | likely benign | not provided | 2018-11-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24728327) |
Ambry Genetics | RCV000566181 | SCV000674546 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-05 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001697111 | SCV002046892 | benign | not provided | 2021-04-10 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000566181 | SCV002526913 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-01 | criteria provided, single submitter | curation | |
Prevention |
RCV004551191 | SCV004737867 | likely benign | PTCH1-related disorder | 2020-07-14 | 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). |
ITMI | RCV000121895 | SCV000086098 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |