ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3600+2T>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002287209 SCV002577406 likely pathogenic Hearing loss, autosomal dominant 37 2022-06-23 criteria provided, single submitter clinical testing PVS1, PM2

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