ClinVar Miner

Submissions for variant NM_001048174.2(MUTYH):c.115+30A>G

gnomAD frequency: 0.02310  dbSNP: rs3219485
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245935 SCV000306736 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001707584 SCV001473478 benign not provided 2020-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001707584 SCV001936526 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000245935 SCV002552529 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316381 SCV004016028 benign Familial adenomatous polyposis 2 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001707584 SCV005281466 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000245935 SCV000691952 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245935 SCV001951450 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245935 SCV001972204 benign not specified no assertion criteria provided clinical testing

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