ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.903+100T>G

gnomAD frequency: 0.04879  dbSNP: rs12534423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732067 SCV000859958 benign not specified 2018-03-19 criteria provided, single submitter clinical testing
Invitae RCV001510657 SCV001717752 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV001692282 SCV001911970 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28874130)

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