ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.*864C>G (rs3026573)

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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 RCV000382930 SCV000434927 likely benign Hirschsprung Disease, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290980 SCV000434928 likely benign Waardenburg syndrome 2016-06-14 criteria provided, single submitter clinical testing

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