ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.28G>T (p.Glu10Ter)

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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 RCV003325300 SCV004030496 pathogenic Ectodermal dysplasia and immunodeficiency 2 criteria provided, single submitter clinical testing

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