ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.1704G>A (p.Pro568=)

gnomAD frequency: 0.00006  dbSNP: rs539901942
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001460466 SCV001664339 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-11-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930961 SCV004740360 likely benign CARD11-related disorder 2019-06-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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