ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.1393G>A (p.Val465Ile)

gnomAD frequency: 0.00001  dbSNP: rs777102927
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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, RCV000852380 SCV000987224 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2019-08-30 no assertion criteria provided clinical testing

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