ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2634+8A>G

gnomAD frequency: 0.00001  dbSNP: rs1060502004
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469126 SCV000548180 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-12 criteria provided, single submitter clinical testing
GeneDx RCV000611674 SCV000716010 likely benign not specified 2017-02-13 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.
Myriad Genetics, Inc. RCV005247032 SCV005895922 likely benign Lynch syndrome 1 2024-12-13 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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