ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.12366+8A>G (rs200404815)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000508628 SCV000328920 uncertain significance Hirschsprung disease 1 2016-11-18 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270085 SCV000366869 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308814 SCV000366870 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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