ClinVar Miner

Submissions for variant NM_000392.5(ABCC2):c.3614+6G>C

gnomAD frequency: 0.00103  dbSNP: rs17222716
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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) RCV000333671 SCV000334077 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV000333671 SCV001033723 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967717 SCV004779813 likely benign ABCC2-related condition 2021-03-09 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).

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