ClinVar Miner

Submissions for variant NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)

dbSNP: rs773779627
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000721957 SCV003831385 uncertain significance Waardenburg syndrome type 4B 2021-07-27 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000721957 SCV000777826 likely pathogenic Waardenburg syndrome type 4B 2018-05-15 no assertion criteria provided research

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