ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.474_478dup (p.Tyr160fs)

gnomAD frequency: 0.00001  dbSNP: rs766516611
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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, RCV001260294 SCV001431232 likely pathogenic Mitochondrial complex I deficiency, nuclear type 1 no assertion criteria provided clinical testing

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