ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.577C>A (p.His193Asn)

dbSNP: rs2052742904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001906855 SCV002181376 benign Ectodermal dysplasia and immunodeficiency 2 2023-08-04 criteria provided, single submitter clinical testing

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