ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.3113C>T (p.Ala1038Val)

gnomAD frequency: 0.00011  dbSNP: rs374682435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040161 SCV001203722 benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2022-12-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160258 SCV003886560 likely benign Inborn genetic diseases 2023-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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