ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1200G>A (p.Glu400=)

dbSNP: rs536884553
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704351 SCV000528567 likely benign not provided 2019-06-03 criteria provided, single submitter clinical testing
Invitae RCV000458705 SCV000561435 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491492 SCV000580349 likely benign Hereditary cancer-predisposing syndrome 2016-05-16 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 RCV000491492 SCV000690183 likely benign Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000491492 SCV002535613 likely benign Hereditary cancer-predisposing syndrome 2021-10-15 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004000461 SCV004843170 likely benign Lynch syndrome 2023-11-20 criteria provided, single submitter clinical testing

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