ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=)

gnomAD frequency: 0.00019  dbSNP: rs8187808
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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) RCV000593245 SCV000703304 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV000593245 SCV001066943 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962669 SCV004776710 likely benign ABCB4-related condition 2019-08-22 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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