ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.267C>T (p.Asp89=)

dbSNP: rs762818044
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001537798 SCV000513675 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000630269 SCV000751225 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-11-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000431908 SCV000919731 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV001016310 SCV001177254 likely benign Hereditary cancer-predisposing syndrome 2018-11-01 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 RCV001016310 SCV001352503 likely benign Hereditary cancer-predisposing syndrome 2019-05-08 criteria provided, single submitter clinical testing

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