ClinVar Miner

Submissions for variant NM_002490.6(NDUFA6):c.355del (p.Leu119fs)

dbSNP: rs781099275
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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 RCV000680375 SCV000787628 pathogenic Mitochondrial disease 2018-07-19 no assertion criteria provided clinical testing
OMIM RCV000710002 SCV000840367 pathogenic Mitochondrial complex 1 deficiency, nuclear type 33 2018-12-13 no assertion criteria provided literature only

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