ClinVar Miner

Submissions for variant NM_000106.6(CYP2D6):c.1457= (p.Ser486=)

gnomAD frequency: 0.42305  dbSNP: rs1135840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601580 SCV000730660 likely benign not specified 2018-03-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003669159 SCV004384663 benign not provided 2024-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003669159 SCV005206557 likely benign not provided criteria provided, single submitter not provided
Bruce Budowle Laboratory, University of North Texas Health Science Center RCV001029641 SCV001192427 drug response Tramadol response 2018-04-28 no assertion criteria provided research

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