ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.636+17C>T

gnomAD frequency: 0.15155  dbSNP: rs2233419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001515227 SCV001723249 benign Ectodermal dysplasia and immunodeficiency 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001707868 SCV001934928 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399289 SCV004102440 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 26% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001707868 SCV005297403 benign not provided criteria provided, single submitter not provided

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