ClinVar Miner

Submissions for variant NM_024678.6(NARS2):c.545T>A (p.Ile182Lys)

dbSNP: rs748779965
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ENT and Head and Neck Research Center and Department, The Five Senses Health Institute, Iran University of Medical Sciences RCV001261537 SCV001244670 pathogenic Combined oxidative phosphorylation defect type 24 2021-05-30 criteria provided, single submitter clinical testing

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