ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.6679C>T (p.Gln2227Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Chaochun Lab, Department of Endocrinology, Children's Hospital, Zhejiang University School Of Medicine RCV003458917 SCV003933674 pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2022-06-02 no assertion criteria provided clinical testing A nonsense mutation occurred in exon12 (c.6679C>T) was identified in our index family, which was not reported. The mutation may be pathogenic according to ACMG guidelines.

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