Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760910 | SCV000890806 | pathogenic | not provided | 2019-01-21 | criteria provided, single submitter | clinical testing | The Q793X variant in the SCAPER gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q793X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q793X as a pathogenic variant. |
New Leaf Center | RCV000984530 | SCV001132588 | likely pathogenic | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | 2019-04-30 | no assertion criteria provided | clinical testing | |
Genome |
RCV000984530 | SCV001423243 | not provided | Intellectual developmental disorder and retinitis pigmentosa; IDDRP | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 01-24-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |