ClinVar Miner

Submissions for variant NM_014251.3(SLC25A13):c.1064G>A (p.Arg355Gln) (rs398122839)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Central Laboratory, The First Affiliated Hospital, Jinan University RCV000077782 SCV000109608 not provided Neonatal intrahepatic cholestasis caused by citrin deficiency no assertion provided not provided
Illumina Clinical Services Laboratory,Illumina RCV000404137 SCV000470728 uncertain significance Citrin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292034 SCV000470729 uncertain significance Citrullinemia type I 2016-06-14 criteria provided, single submitter clinical testing

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