Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205722 | SCV000260354 | likely benign | Multiple endocrine neoplasia, type 2 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000454735 | SCV000540168 | likely benign | not specified | 2016-08-12 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, not in splice consensus; Reported in 1 Hirschprung proband; ClinVar: 1 VUS |
Ambry Genetics | RCV001015918 | SCV001176812 | likely benign | Hereditary cancer-predisposing syndrome | 2022-03-28 | 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. |