ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)

gnomAD frequency: 0.00006  dbSNP: rs148865252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090895 SCV001246659 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV001090895 SCV004612144 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536140 SCV004735381 likely benign ABCB4-related disorder 2024-01-12 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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