ClinVar Miner

Submissions for variant NM_017866.6(TMEM70):c.479A>C (p.His160Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004813522 SCV005438570 uncertain significance Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 2024-12-18 criteria provided, single submitter clinical testing

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