ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.1085+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics, Hannover Medical School RCV004556963 SCV005045618 likely pathogenic Waardenburg syndrome type 4A 2024-05-28 criteria provided, single submitter clinical testing

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