ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3303C>T (p.Arg1101=)

gnomAD frequency: 0.00005  dbSNP: rs764369378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000651144 SCV000772994 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2023-01-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811424 SCV001471741 likely benign not provided 2020-07-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336764 SCV001530239 uncertain significance BENTA disease 2018-01-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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