ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.98dup (p.Leu33fs)

dbSNP: rs1579966821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000985151 SCV004231780 pathogenic Glucocorticoid deficiency 4 2023-05-12 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985151 SCV001133143 likely pathogenic Glucocorticoid deficiency 4 2019-09-26 no assertion criteria provided clinical testing

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