ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2266+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
MVZ Medizinische Genetik Mainz RCV004797655 SCV005419011 likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2024-11-04 criteria provided, single submitter clinical testing ACMG Criteria: PVS1,PM2_SUP

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