Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002240545 | SCV001232967 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-07-10 | criteria provided, single submitter | clinical testing | |
Genome |
RCV003483773 | SCV004228925 | not provided | Ehlers-Danlos syndrome, classic type | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 01-25-2021 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |