ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3019+17G>C

dbSNP: rs181294101
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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 RCV002175521 SCV002345757 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-01 criteria provided, single submitter clinical testing

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