ClinVar Miner

Submissions for variant 5'UTR-exon 1 deletion (2703 bp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000301 SCV000020445 pathogenic Desbuquois dysplasia 1 2009-11-01 no assertion criteria provided literature only

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