ClinVar Miner

Submissions for variant NM_032415.7(CARD11):c.2231G>A (p.Ser744Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003787728 SCV004604222 likely benign Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004374386 SCV004920211 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.2231G>A (p.S744N) alteration is located in exon 17 (coding exon 16) of the CARD11 gene. This alteration results from a G to A substitution at nucleotide position 2231, causing the serine (S) at amino acid position 744 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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