ClinVar Miner

Submissions for variant NM_004553.6(NDUFS6):c.80G>A (p.Cys27Tyr)

dbSNP: rs1579936916
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985110 SCV001133081 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 9 2019-09-26 no assertion criteria provided clinical testing

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