ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.*138_*139insCC

dbSNP: rs886056876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264903 SCV000434885 uncertain significance Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324722 SCV000434886 uncertain significance Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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