ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.251-72A>G

gnomAD frequency: 0.02449  dbSNP: rs117831773
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076862 SCV000108355 no known pathogenicity Lynch syndrome 2013-09-05 reviewed by expert panel research MAF >1%
GeneDx RCV001610347 SCV001842337 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001682758 SCV001905772 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001682758 SCV001951573 benign not specified no assertion criteria provided clinical testing

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