ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.870G>T (p.Gly290=)

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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 RCV003798331 SCV004581057 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-08-08 criteria provided, single submitter clinical testing

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