ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)

gnomAD frequency: 0.00001  dbSNP: rs1013401625
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213246 SCV001384868 benign Hereditary nonpolyposis colorectal neoplasms 2023-02-16 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258160 SCV002534492 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-26 criteria provided, single submitter curation
Ambry Genetics RCV002258160 SCV003910948 likely benign Hereditary cancer-predisposing syndrome 2022-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Baylor Genetics RCV003462715 SCV004193915 uncertain significance Lynch syndrome 1 2023-10-27 criteria provided, single submitter clinical testing

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