NM_000346.4(SOX9):c.816C>T (p.Asp272=) AND Camptomelic dysplasia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003602774.2
Allele description [Variation Report for NM_000346.4(SOX9):c.816C>T (p.Asp272=)]
NM_000346.4(SOX9):c.816C>T (p.Asp272=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024