ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.232C>T (p.Leu78=)

gnomAD frequency: 0.00005  dbSNP: rs764390911
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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) RCV000732811 SCV000860798 uncertain significance not provided 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000732811 SCV004268948 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928243 SCV004740576 likely benign ABCC2-related disorder 2019-05-28 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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