ClinVar Miner

Submissions for variant nsv1067862

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004696 SCV000024871 pathogenic Nephropathic cystinosis 2009-11-01 no assertion criteria provided literature only
OMIM RCV000004697 SCV000024872 pathogenic Juvenile nephropathic cystinosis 2009-11-01 no assertion criteria provided literature only
OMIM RCV000004698 SCV000024873 pathogenic Ocular cystinosis 2009-11-01 no assertion criteria provided literature only
GeneReviews RCV000004696 SCV000058483 pathologic Nephropathic cystinosis 2011-08-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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