ClinVar Miner

Submissions for variant NM_002490.6(NDUFA6):c.3G>A (p.Met1Ile)

gnomAD frequency: 0.00002  dbSNP: rs1023075742
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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 RCV000680370 SCV000787623 pathogenic Mitochondrial disease 2018-07-19 no assertion criteria provided clinical testing
OMIM RCV000710000 SCV000840365 pathogenic Mitochondrial complex 1 deficiency, nuclear type 33 2018-12-13 no assertion criteria provided literature only

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