ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.1259dup (p.His421fs) (rs864309519)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000202606 SCV000255596 pathogenic Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency criteria provided, single submitter research

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