ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val)

gnomAD frequency: 0.00078  dbSNP: rs149200446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597912 SCV000702721 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000597912 SCV002541101 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000597912 SCV003252804 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000597912 SCV005190987 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003980079 SCV004790333 likely benign ABCC2-related disorder 2021-04-14 no assertion criteria provided 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).

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