ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.501T>C (p.Ser167=)

dbSNP: rs1572716201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001023436 SCV001185307 likely benign Hereditary cancer-predisposing syndrome 2018-06-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001405392 SCV001607311 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726416 SCV001962250 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing

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