ClinVar Miner

Submissions for variant NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)

gnomAD frequency: 0.00098  dbSNP: rs11568360
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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) RCV000725478 SCV000337209 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
GeneDx RCV000339581 SCV000530157 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000725478 SCV001105450 likely benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276311 SCV001462445 uncertain significance Progressive familial intrahepatic cholestasis type 2 2020-01-08 no assertion criteria provided clinical testing

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