Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Pediatrics, |
RCV003388641 | SCV004042674 | pathogenic | Stickler syndrome type 1 | no assertion criteria provided | research | Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by ophthalmologists due to the high rate of ocular complications. Stickler Syndrome type I (STL1) is the most common form of SS, accounting for approximately 80–90% of cases . STL1 is the classic AD type, caused by heterozygous pathogenic variants in COL2A1. |