Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000930925 | SCV001076585 | likely benign | Congenital muscular hypertrophy-cerebral syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Genome |
RCV003483747 | SCV004228977 | not provided | Cornelia de Lange syndrome 1; Developmental and epileptic encephalopathy, 85, with or without midline brain defects | no assertion provided | phenotyping only | Variant interpreted as Likely benign and reported on 03-06-2020 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. |