ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.*139_*140del (rs1555850390)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000335133 SCV000434889 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375606 SCV000434890 uncertain significance Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing

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