Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000655264 | SCV000777194 | likely benign | Adams-Oliver syndrome 5 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001535555 | SCV001749532 | not provided | Adams-Oliver syndrome 5; Aortic valve disorder | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 01-13-2020 by 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. |