ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly)

gnomAD frequency: 0.00001  dbSNP: rs886044710
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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) RCV000369216 SCV000345997 uncertain significance not provided 2016-09-22 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003557 SCV001161901 likely pathogenic Cholestasis, intrahepatic, of pregnancy, 3 no assertion criteria provided research

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