ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.228-15C>T

gnomAD frequency: 0.00001  dbSNP: rs752721097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788545 SCV000927696 uncertain significance not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068545 SCV002447654 likely benign Ectodermal dysplasia and immunodeficiency 2 2023-08-30 criteria provided, single submitter clinical testing

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