ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)

dbSNP: rs118203917
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000000673 SCV001136152 pathogenic Cytochrome-c oxidase deficiency disease 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV001089468 SCV000020823 pathogenic Combined oxidative phosphorylation deficiency 44 2008-09-01 no assertion criteria provided literature only

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