ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.753C>G (p.Ile251Met)

dbSNP: rs2075824424
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV001250067 SCV001424272 likely pathogenic HSD10 mitochondrial disease 2020-04-01 criteria provided, single submitter clinical testing

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