ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.1429+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University RCV003458925 SCV004176796 pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans criteria provided, single submitter clinical testing

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