Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578648 | SCV000681343 | pathogenic | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Genome |
RCV001249406 | SCV001423404 | not provided | SCN2A-related disorder | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 01-23-2018 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. | |
Genome |
RCV001265407 | SCV001443533 | pathogenic | Complex neurodevelopmental disorder | 2018-03-16 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-03-16 and interpreted as Pathogenic. Variant was initially reported on 2018-01-23 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |