ClinVar Miner

Submissions for variant NM_001086521.2(NDUFAF8):c.1A>C (p.Met1Leu)

dbSNP: rs1318084629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV002253062 SCV002523171 pathogenic Mitochondrial complex 1 deficiency, nuclear type 34 2022-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV002253062 SCV003836262 pathogenic Mitochondrial complex 1 deficiency, nuclear type 34 2022-03-30 criteria provided, single submitter clinical testing

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