ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) (rs768126403)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal University RCV000721946 SCV000777824 pathogenic Waardenburg syndrome type 4A 2018-05-15 no assertion criteria provided research
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital RCV000721946 SCV000902303 likely pathogenic Waardenburg syndrome type 4A 2019-02-26 no assertion criteria provided case-control

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