ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.646-3T>C

gnomAD frequency: 0.00001  dbSNP: rs267607930
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203689 SCV000260478 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001722122 SCV000517460 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565426 SCV000669718 likely benign Hereditary cancer-predisposing syndrome 2020-04-03 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.
Counsyl RCV000662873 SCV000785765 uncertain significance Lynch syndrome 1 2017-11-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565426 SCV000905223 likely benign Hereditary cancer-predisposing syndrome 2017-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798681 SCV002042112 uncertain significance Breast and/or ovarian cancer 2020-11-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000565426 SCV002534546 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-04 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235128 SCV003934381 uncertain significance not specified 2023-05-13 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000662873 SCV004018249 likely benign Lynch syndrome 1 2023-03-17 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences RCV004530227 SCV004720111 likely benign MSH2-related disorder 2019-08-01 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).
All of Us Research Program, National Institutes of Health RCV003997616 SCV004816595 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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