Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067460 | SCV001232525 | benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2023-06-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003396714 | SCV004118815 | uncertain significance | IFIH1-related disorder | 2023-10-04 | criteria provided, single submitter | clinical testing | The IFIH1 c.2392A>G variant is predicted to result in the amino acid substitution p.Ile798Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0079% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-163130367-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |