ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=)

gnomAD frequency: 0.00002  dbSNP: rs4148401
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593327 SCV000704433 uncertain significance not provided 2016-12-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000593327 SCV004266022 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004745496 SCV005342268 likely benign ABCC2-related disorder 2024-06-18 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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