ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.915A>C (p.Ala305=)

gnomAD frequency: 0.00001  dbSNP: rs757483245
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226255 SCV000284194 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774559 SCV000908285 likely benign Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774559 SCV001180224 likely benign Hereditary cancer-predisposing syndrome 2018-04-16 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.
All of Us Research Program, National Institutes of Health RCV003998768 SCV004831633 likely benign Lynch syndrome 2023-12-18 criteria provided, single submitter clinical testing

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