ClinVar Miner

Submissions for variant NM_006012.4(CLPP):c.270+4A>G

dbSNP: rs398123035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049284 SCV000077542 pathogenic Perrault syndrome 3 2013-04-04 no assertion criteria provided literature only
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000201253 SCV000249610 pathogenic Autosomal recessive hearing impairment with normal menstrual cycles 2013-06-17 no assertion criteria provided research
GeneReviews RCV002513677 SCV003525948 not provided Perrault syndrome no assertion provided literature only

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