ClinVar Miner

Submissions for variant NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp)

gnomAD frequency: 0.07388  dbSNP: rs9282564
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003973031 SCV004798658 likely benign ABCB1-related disorder 2021-07-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Bruce Budowle Laboratory, University of North Texas Health Science Center RCV001029248 SCV001192034 drug response Tramadol response 2018-04-28 no assertion criteria provided research

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