ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1662C>T (p.Ser554=)

dbSNP: rs587778525
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221508 SCV000273835 likely benign Hereditary cancer-predisposing syndrome 2015-02-06 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.
Invitae RCV000457090 SCV000548236 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-11-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000221508 SCV000690014 likely benign Hereditary cancer-predisposing syndrome 2017-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001650983 SCV001863810 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
All of Us Research Program, National Institutes of Health RCV003997348 SCV004834037 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
ITMI RCV000121561 SCV000085755 not provided not specified 2013-09-19 no assertion provided reference population

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