Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001253718 | SCV001429570 | uncertain significance | Aicardi-Goutieres syndrome 7 | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001344499 | SCV001538558 | likely benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002570537 | SCV003694536 | uncertain significance | Inborn genetic diseases | 2022-07-29 | criteria provided, single submitter | clinical testing | The c.1157G>A (p.R386H) alteration is located in exon 6 (coding exon 6) of the IFIH1 gene. This alteration results from a G to A substitution at nucleotide position 1157, causing the arginine (R) at amino acid position 386 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |