ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.655-2A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, The First Affiliated Hospital of Wenzhou Medical University 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.

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