ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3145-14C>T

gnomAD frequency: 0.00037  dbSNP: rs201827805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000354 SCV001157093 likely benign not specified 2019-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002068751 SCV002409726 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707526 SCV005228353 likely benign not provided criteria provided, single submitter not provided

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