ClinVar Miner

Submissions for variant NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)

gnomAD frequency: 0.00001  dbSNP: rs754565782
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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) RCV000176528 SCV000228200 uncertain significance not provided 2015-06-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000176528 SCV001246658 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003934 SCV001161908 likely pathogenic Cholestasis, intrahepatic, of pregnancy, 3 no assertion criteria provided research

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