ClinVar Miner

Submissions for variant NM_001080463.1(DYNC2H1):c.[11284A>G;5971A>T]

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680171 SCV000807650 pathogenic Short-rib thoracic dysplasia 3 with or without polydactyly 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another missense variant in two sibs with short rib polydactyly syndrome.
Rare Disease Group, Clinical Genetics,Karolinska Institutet RCV000754938 SCV000788363 uncertain significance Jeune thoracic dystrophy 2018-05-01 criteria provided, single submitter research

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