ClinVar Miner

Submissions for variant NM_020529.3(NFKBIA):c.594C>T (p.Ile198=)

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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 RCV003516335 SCV004296104 likely benign Ectodermal dysplasia and immunodeficiency 2 2023-08-17 criteria provided, single submitter clinical testing

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