ClinVar Miner

Submissions for variant NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)

gnomAD frequency: 0.00001  dbSNP: rs760677132
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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 RCV000721945 SCV000777825 uncertain significance Waardenburg syndrome type 4A 2018-05-15 no assertion criteria provided research

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