NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) AND Cholestanol storage disease
- Germline classification:
- Conflicting classifications of pathogenicity (3 submissions)
- Last evaluated:
- Dec 6, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000926550.5
Assertion and evidence details
Last Updated: Nov 29, 2021