ClinVar Miner

Submissions for variant NM_001687.5(ATP5F1D):c.317T>G (p.Val106Gly)

dbSNP: rs1555745989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000627809 SCV000680464 pathogenic Mitochondrial disease 2017-11-21 no assertion criteria provided clinical testing
OMIM RCV000680227 SCV000807681 pathogenic Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 2018-09-17 no assertion criteria provided literature only

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