Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002112543 | SCV002397357 | likely benign | Hyper-IgM syndrome type 1 | 2023-12-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003025380 | SCV003600359 | uncertain significance | Inborn genetic diseases | 2022-01-26 | criteria provided, single submitter | clinical testing | The c.478C>G (p.Q160E) alteration is located in exon 5 (coding exon 5) of the CD40LG gene. This alteration results from a C to G substitution at nucleotide position 478, causing the glutamine (Q) at amino acid position 160 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |