Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000408969 | SCV000487820 | uncertain significance | Paragangliomas 4 | 2015-11-21 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000455540 | SCV000540304 | uncertain significance | 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: Reported in 1 proband; ClinVar: 1 VUS |
Labcorp Genetics |
RCV000477264 | SCV000554024 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2025-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000492780 | SCV000581202 | benign | Hereditary cancer-predisposing syndrome | 2016-09-30 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV001527323 | SCV001738291 | uncertain significance | not provided | 2024-05-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25637381, 28873162, 29386252, 21979946) |
Myriad Genetics, |
RCV000408969 | SCV004045373 | uncertain significance | Paragangliomas 4 | 2023-04-24 | criteria provided, single submitter | clinical testing | This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk. |
Baylor Genetics | RCV003474796 | SCV004202996 | uncertain significance | Gastrointestinal stromal tumor | 2024-03-19 | criteria provided, single submitter | clinical testing | |
CSER _CC_NCGL, |
RCV000148870 | SCV000190614 | uncertain significance | Pheochromocytoma | 2014-06-01 | no assertion criteria provided | research |