Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Chaochun Lab, |
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. |