Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Collagen Diagnostic Laboratory, |
RCV000087640 | SCV000120531 | pathogenic | Ehlers-Danlos syndrome, type 4 | no assertion criteria provided | clinical testing | ||
Genome |
RCV000087640 | SCV000840201 | not provided | Ehlers-Danlos syndrome, type 4 | 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. |