ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.2121G>A (p.Met707Ile)

dbSNP: rs1321888585
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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 RCV000985117 SCV001133093 likely pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2019-09-26 no assertion criteria provided clinical testing

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