ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1266+1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV003485994 SCV004232643 pathogenic Kniest dysplasia 2024-01-18 criteria provided, single submitter clinical testing The c.1266+1G>T variant in COL2A1 was found de novo in a heterozygous fetus with Kniest dysplasia.

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