ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1277-12A>G

gnomAD frequency: 0.00001  dbSNP: rs1181142850
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001801078 SCV002046578 uncertain significance not provided 2021-01-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541341 SCV003521677 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-05-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV005247288 SCV005895468 likely benign Lynch syndrome 1 2024-12-06 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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