ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3747C>T (p.Tyr1249=)

dbSNP: rs1057520326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712196 SCV000513702 likely benign not provided 2019-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22495361)
Ambry Genetics RCV000572832 SCV000670000 likely benign Hereditary cancer-predisposing syndrome 2016-07-29 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268045 SCV002552362 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524776 SCV002968905 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-10-27 criteria provided, single submitter clinical testing

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