Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Duke University Health System Sequencing Clinic, |
RCV001007402 | SCV003918915 | pathogenic | Schinzel-Giedion syndrome | 2023-04-20 | criteria provided, single submitter | research | |
Genome |
RCV000509340 | SCV000607194 | not provided | not provided | no assertion provided | phenotyping only | 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. | |
Genomics And Bioinformatics Analysis Resource, |
RCV001007402 | SCV001162777 | pathogenic | Schinzel-Giedion syndrome | 2020-02-25 | no assertion criteria provided | clinical testing |