ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4519-2del

dbSNP: rs2100852418
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV001806225 SCV001745846 pathogenic Marshall syndrome; Stickler syndrome type 2; Hearing loss, autosomal dominant 37 2021-02-11 criteria provided, single submitter clinical testing

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