ClinVar Miner

Submissions for variant NM_016008.4(DYNC2LI1):c.993+3A>G (rs879255656)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
David Geffen School of Medicine,University of California, Los Angeles RCV000754099 SCV000212256 pathogenic Short-rib thoracic dysplasia 1 with or without polydactyly no assertion criteria provided research
OMIM RCV000239617 SCV000298011 pathogenic Short-rib thoracic dysplasia 15 with polydactyly 2015-06-16 no assertion criteria provided literature only

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