NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr) AND Cholestanol storage disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 18, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002047167.5
Assertion and evidence details
Last Updated: Mar 5, 2024