ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)

dbSNP: rs372189599
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168388 SCV000219081 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-08-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508172 SCV000601440 uncertain significance not specified 2017-07-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568410 SCV000669807 likely benign Hereditary cancer-predisposing syndrome 2023-03-20 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 RCV000568410 SCV000908271 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568410 SCV002534405 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter curation
Baylor Genetics RCV003468832 SCV004196242 uncertain significance Lynch syndrome 1 2023-09-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003995625 SCV004831972 uncertain significance Lynch syndrome 2023-11-30 criteria provided, single submitter clinical testing

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