ClinVar Miner

Submissions for variant NM_021074.5(NDUFV2):c.548C>T (p.Ala183Val)

dbSNP: rs763378243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806295 SCV002053788 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 7 criteria provided, single submitter clinical testing

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