Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002277956 | SCV002565478 | uncertain significance | Ehlers-Danlos syndrome | 2021-01-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004548257 | SCV004107887 | uncertain significance | COL1A1-related disorder | 2023-06-29 | criteria provided, single submitter | clinical testing | The COL1A1 c.1845G>T variant is predicted to result in the amino acid substitution p.Glu615Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-48270188-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Labcorp Genetics |
RCV003631236 | SCV004551575 | likely benign | Osteogenesis imperfecta type I | 2023-10-17 | criteria provided, single submitter | clinical testing |