ClinVar Miner

Submissions for variant NM_001322934.2(NFKB2):c.2598T>C (p.Ser866=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003142517 SCV003807041 uncertain significance Immunodeficiency, common variable, 10 2022-08-05 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated
Labcorp Genetics (formerly Invitae), Labcorp RCV003142517 SCV004673739 likely benign Immunodeficiency, common variable, 10 2023-11-18 criteria provided, single submitter clinical testing

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