ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.636+19C>T

gnomAD frequency: 0.00002  dbSNP: rs759618202
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002186718 SCV002350423 likely benign Ectodermal dysplasia and immunodeficiency 2 2023-08-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002186718 SCV002795005 likely benign Ectodermal dysplasia and immunodeficiency 2 2021-09-21 criteria provided, single submitter clinical testing

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