ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1467A>G (p.Pro489=)

gnomAD frequency: 0.00001  dbSNP: rs1288566407
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602229 SCV000713969 likely benign not specified 2017-05-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062162 SCV002338264 likely benign Hereditary nonpolyposis colorectal neoplasms 2022-02-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002488 SCV004815892 likely benign Lynch syndrome 2023-02-24 criteria provided, single submitter clinical testing

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