Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV002276560 | SCV002565574 | pathogenic | Ehlers-Danlos syndrome | 2018-11-01 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000018791 | SCV000039074 | pathogenic | Ehlers-danlos syndrome, arthrochalasia type, 2 | 1994-01-01 | no assertion criteria provided | literature only |