ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.46C>T (p.Leu16=)

gnomAD frequency: 0.64407  dbSNP: rs10057103
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001780398 SCV002026823 benign Glucocorticoid deficiency 4 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002070356 SCV002455488 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002070356 SCV005298752 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529277 SCV001742453 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001529277 SCV001951415 benign not specified no assertion criteria provided clinical testing

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