ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.777del (p.Val260fs)

dbSNP: rs2137610942
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001375041 SCV001572178 likely pathogenic Waardenburg syndrome type 4A criteria provided, single submitter clinical testing

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