ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.104_105dup (p.Gln36fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV004776544 SCV005387913 likely pathogenic Stickler syndrome, type I, nonsyndromic ocular 2024-04-15 criteria provided, single submitter clinical testing

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