ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) (rs397514635)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dan Cohn Lab,University Of California Los Angeles RCV000515872 SCV000611908 pathogenic Short-rib polydactyly syndrome type III 2017-06-01 no assertion criteria provided research
OMIM RCV000033158 SCV000056940 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2012-04-01 no assertion criteria provided literature only

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