ClinVar Miner

Submissions for variant NM_004493.3(HSD17B10):c.706C>T (p.Leu236Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV003228712 SCV003924400 likely pathogenic HSD10 mitochondrial disease criteria provided, single submitter clinical testing

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