ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.732A>G (p.Gln244=)

gnomAD frequency: 0.00003  dbSNP: rs774496371
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705235 SCV000279492 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001705235 SCV000601615 likely benign not provided 2023-09-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000584660 SCV000690475 likely benign Hereditary cancer-predisposing syndrome 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV000922724 SCV001068164 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584660 SCV001188624 likely benign Hereditary cancer-predisposing syndrome 2018-03-27 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.
All of Us Research Program, National Institutes of Health RCV003998629 SCV004836908 likely benign Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing

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