ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.592C>A (p.Pro198Thr)

dbSNP: rs886037927
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000240845 SCV000299333 likely pathogenic HSD10 mitochondrial disease 2016-08-08 criteria provided, single submitter clinical testing

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