ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.174C>T (p.Asp58=)

gnomAD frequency: 0.00085  dbSNP: rs11568362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595893 SCV000705909 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000595893 SCV001118561 benign not provided 2024-10-14 criteria provided, single submitter clinical testing
GeneDx RCV000595893 SCV001779768 likely benign not provided 2020-04-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22795478, 20010382)
Natera, Inc. RCV001829659 SCV002077913 likely benign Progressive familial intrahepatic cholestasis type 2 2021-01-07 no assertion criteria provided clinical testing

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