ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.903C>T (p.Asp301=)

gnomAD frequency: 0.00052  dbSNP: rs146132589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000919011 SCV001064344 benign Ectodermal dysplasia and immunodeficiency 2 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902982 SCV004722654 likely benign NFKBIA-related disorder 2019-08-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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