ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.391T>G (p.Phe131Val)

dbSNP: rs755423698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491136 SCV000580597 benign Hereditary cancer-predisposing syndrome 2022-03-10 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000491136 SCV000690107 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-03 criteria provided, single submitter clinical testing
Invitae RCV000810636 SCV000950857 benign Hereditary nonpolyposis colorectal neoplasms 2023-10-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003473 SCV004830155 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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