Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002231243 | SCV000627339 | benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-02-23 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900118 | SCV004711575 | uncertain significance | COL1A2-related disorder | 2023-11-03 | criteria provided, single submitter | clinical testing | The COL1A2 c.52T>G variant is predicted to result in the amino acid substitution p.Cys18Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-94024395-T-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |