ClinVar Miner

Submissions for variant NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met)

dbSNP: rs371659063
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, RCV001174541 SCV001334151 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 2 no assertion criteria provided clinical testing

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