ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.757+1G>A

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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 RCV003448493 SCV003931265 likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans 2021-06-01 no assertion criteria provided clinical testing The novel heterozygous mutation c.757+1G>A in exon 5 in ACAN was not reported, which segregated in the index family.

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