ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10043-7T>A (rs376067770)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731907 SCV000859775 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378511 SCV000366797 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286468 SCV000366798 uncertain significance Short Rib Polydactyly Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000378511 SCV000755499 likely benign Jeune thoracic dystrophy 2017-09-05 criteria provided, single submitter clinical testing

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