ClinVar Miner

Submissions for variant NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)

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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 RCV003882754 SCV004697816 likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 2024-03-01 criteria provided, single submitter clinical testing

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