Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214742 | SCV001386443 | likely benign | Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease | 2023-10-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003163645 | SCV003899510 | uncertain significance | Inborn genetic diseases | 2023-01-31 | criteria provided, single submitter | clinical testing | The c.715A>G (p.M239V) alteration is located in exon 6 (coding exon 5) of the CARD11 gene. This alteration results from a A to G substitution at nucleotide position 715, causing the methionine (M) at amino acid position 239 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |