ClinVar Miner

Submissions for variant NM_018849.3(ABCB4):c.147C>T (p.Ser49=) (rs8187789)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000253197 SCV000521778 benign not specified 2016-02-24 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 RCV000305097 SCV000470168 likely benign Familial Intrahepatic Cholestasis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334281 SCV000470169 likely benign Progressive intrahepatic cholestasis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000253197 SCV000304282 benign not specified criteria provided, single submitter clinical testing

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