ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.*78GAA[1]

dbSNP: rs145753299
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318030 SCV000386621 benign Ectodermal dysplasia and immunodeficiency 2 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001711930 SCV001941931 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401317 SCV004102418 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 28% of patients studied by a panel of primary immunodeficiencies. Number of patients: 27. Only high quality variants are reported.

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