ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.1538C>T (p.Pro513Leu) (rs587777444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000675096 SCV000800629 uncertain significance Bifunctional peroxisomal enzyme deficiency 2017-11-30 criteria provided, single submitter clinical testing
OMIM RCV000125467 SCV000168919 pathogenic Perrault syndrome 1 2014-03-18 no assertion criteria provided literature only

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