ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2007-9T>C

gnomAD frequency: 0.00001  dbSNP: rs1194759833
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395351 SCV001597060 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-12-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307639 SCV002600338 uncertain significance not specified 2022-10-07 criteria provided, single submitter clinical testing

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