ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2445+30A>G

gnomAD frequency: 0.00490  dbSNP: rs549704870
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000584412 SCV002550680 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692216 SCV005224535 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000584412 SCV000691957 benign not specified no assertion criteria provided clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute RCV001692216 SCV001906173 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001692216 SCV001958018 likely benign not provided no assertion criteria provided clinical testing

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