ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) (rs431905507)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000033161 SCV000056943 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2012-04-01 no assertion criteria provided literature only

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