ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.*148_*149del (rs11475273)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000281182 SCV000434891 uncertain significance Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000350041 SCV000434892 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001534094 SCV001750992 likely benign not provided 2019-01-25 criteria provided, single submitter clinical testing

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