ClinVar Miner

Submissions for variant NM_182977.3(NNT):c.1098+17T>C

gnomAD frequency: 0.01000  dbSNP: rs16873430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197774 SCV001368553 benign Glucocorticoid deficiency 4 2018-11-08 criteria provided, single submitter clinical testing This variant was classified as: Benign. The following ACMG criteria were applied in classifying this variant: BS1,BS2.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069285 SCV002358154 benign not provided 2025-01-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002069285 SCV005298757 benign not provided criteria provided, single submitter not provided

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