Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478969 | SCV000564688 | likely benign | not provided | 2020-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084762 | SCV000772920 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001084762 | SCV003829714 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2019-10-15 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000478969 | SCV004228745 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Benign and reported on 09-08-2020 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. |