Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200394 | SCV000255204 | likely benign | Multiple endocrine neoplasia, type 1 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455592 | SCV000539617 | uncertain significance | not specified | 2016-03-29 | 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: Only reported in 1 proband; ExAC: 7/66574 European chromosomes |
Gene |
RCV000708708 | SCV000822019 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000708708 | SCV001186352 | benign | Hereditary cancer-predisposing syndrome | 2023-05-20 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Prevention |
RCV003945177 | SCV004757740 | uncertain significance | MEN1-related condition | 2023-12-20 | criteria provided, single submitter | clinical testing | The MEN1 c.578C>T variant is predicted to result in the amino acid substitution p.Pro193Leu. This variant has been reported in an individual with hyperparathyroidism (Starker et al. 2012. PubMed ID: 22187299); however, no evidence was provided to support its pathogenicity. This variant is reported in 0.013% of alleles in individuals of European (Non-Finnish) descent in gnomAD and is interpreted as uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/161295/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
CSER _CC_NCGL, |
RCV000148613 | SCV000190328 | uncertain significance | Hyperparathyroidism | 2014-06-01 | no assertion criteria provided | research |