ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2395-3T>C

gnomAD frequency: 0.00029  dbSNP: rs377462787
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596344 SCV000706891 uncertain significance not provided 2018-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530705 SCV004711118 likely benign ABCB4-related disorder 2022-06-14 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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