ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) (rs431905498)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006882 SCV000027078 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2009-04-01 no assertion criteria provided literature only
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754947 SCV000788372 uncertain significance Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research

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