ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.-185C>A

gnomAD frequency: 0.00223  dbSNP: rs188036046
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131753 SCV000186796 likely benign Hereditary cancer-predisposing syndrome 2018-11-16 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.
PreventionGenetics, part of Exact Sciences RCV000679281 SCV000805987 likely benign not provided 2017-07-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507338 SCV000888206 benign not specified 2017-11-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315915 SCV004015949 likely benign Lynch syndrome 1 2023-07-07 criteria provided, single submitter clinical testing

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