ClinVar Miner

Submissions for variant NM_018849.3(ABCB4):c.3306C>T (p.Leu1102=) (rs561612231)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727090 SCV000705566 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing
GeneDx RCV000422791 SCV000529399 likely benign not specified 2016-07-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000407779 SCV000470127 uncertain significance Familial Intrahepatic Cholestasis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314096 SCV000470128 uncertain significance Progressive intrahepatic cholestasis 2016-06-14 criteria provided, single submitter clinical testing

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