ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1659C>T (p.Asn553=)

dbSNP: rs869312796
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000210193 SCV000266194 uncertain significance Lynch syndrome 2015-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491646 SCV000580584 likely benign Hereditary cancer-predisposing syndrome 2018-08-13 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.
Color Diagnostics, LLC DBA Color Health RCV000491646 SCV000911930 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-13 criteria provided, single submitter clinical testing
Invitae RCV000920254 SCV001065616 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-09 criteria provided, single submitter clinical testing

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