NM_001369268.1(ACAN):c.919G>A (p.Val307Met) AND Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002290297.1
Allele description [Variation Report for NM_001369268.1(ACAN):c.919G>A (p.Val307Met)]
NM_001369268.1(ACAN):c.919G>A (p.Val307Met)
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023