ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2064C>G (p.Val688=)

dbSNP: rs1057524297
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721461 SCV000535113 likely benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000630387 SCV000751343 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-05-17 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268060 SCV002552301 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418332 SCV002727643 likely benign Hereditary cancer-predisposing syndrome 2022-10-27 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.

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