ClinVar Miner

Submissions for variant GRCh37/hg19 12q24.31(chr12:123738221-123738503)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular and Human Genetics, Baylor College of Medicine RCV001195132 SCV001334090 pathogenic Combined oxidative phosphorylation defect type 7 2020-04-16 no assertion criteria provided clinical testing

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