Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics, |
RCV001376667 | SCV001478012 | likely pathogenic | Global developmental delay; Seizure; Intellectual disability | 2021-01-18 | criteria provided, single submitter | research | |
Genome |
RCV001824945 | SCV002075023 | not provided | not provided | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 12-12-2018 by Lab or GTR ID 1006. 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. |