Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002276562 | SCV002565560 | likely pathogenic | Ehlers-Danlos syndrome | 2020-08-21 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018816 | SCV000039099 | pathogenic | Ehlers-Danlos syndrome, cardiac valvular type | 2004-05-01 | no assertion criteria provided | literature only |