ClinVar Miner

Submissions for variant GRCh37/hg19 5q23.1(chr5:118811401-118814716)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001004086 SCV001162810 pathogenic Bifunctional peroxisomal enzyme deficiency 2017-12-07 criteria provided, single submitter clinical testing

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