ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1276+16G>A

gnomAD frequency: 0.00016  dbSNP: rs368120695
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411558 SCV000489665 likely benign Lynch syndrome 1 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000421899 SCV000513658 benign not specified 2015-08-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000579646 SCV000684921 likely benign Hereditary cancer-predisposing syndrome 2016-05-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421899 SCV000696205 likely benign not specified 2024-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058853 SCV002495247 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-27 criteria provided, single submitter clinical testing

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