Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001329563 | SCV001521035 | uncertain significance | Immunodeficiency, common variable, 10 | 2020-07-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Ambry Genetics | RCV004035680 | SCV004989293 | uncertain significance | Inborn genetic diseases | 2024-01-09 | criteria provided, single submitter | clinical testing | The c.1297G>C (p.E433Q) alteration is located in exon 13 (coding exon 12) of the NFKB2 gene. This alteration results from a G to C substitution at nucleotide position 1297, causing the glutamic acid (E) at amino acid position 433 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |