ClinVar Miner

Submissions for variant NM_000754.4(COMT):c.408C>G (p.Leu136=)

gnomAD frequency: 0.32165  dbSNP: rs4818
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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 RCV000252295 SCV000305504 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001723842 SCV001950496 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19641441, 9323320, 30218069, 25766270)
Breakthrough Genomics, Breakthrough Genomics RCV001723842 SCV005275349 benign not provided criteria provided, single submitter not provided
Bruce Budowle Laboratory, University of North Texas Health Science Center RCV001029692 SCV001192478 drug response Tramadol response 2018-04-28 no assertion criteria provided research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000252295 SCV001740422 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000252295 SCV001809723 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252295 SCV001952573 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252295 SCV001968508 benign not specified no assertion criteria provided clinical testing
Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology RCV003313783 SCV002822981 uncertain risk allele methamphetamine use disorder 2023-01-16 no assertion criteria provided case-control

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