ClinVar Miner

Submissions for variant NM_001080463.1(DYNC2H1):c.[5053G>A];[7784A>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000493677 SCV000580673 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2015-06-09 no assertion criteria provided clinical testing The observed variant is not reported in 1000 genome and ExAC databases and is likely to be pathogenic by In Silico analysis using mutation taster, SIFT and PolyPhen.

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