ClinVar Miner

Submissions for variant NM_018849.3(ABCB4):c.1784G>A (p.Arg595Gln) (rs144398632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000268294 SCV000470153 uncertain significance Familial Intrahepatic Cholestasis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297587 SCV000470154 uncertain significance Progressive intrahepatic cholestasis 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592358 SCV000706337 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing

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