NM_000527.5(LDLR):c.438C>A (p.Leu146=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001184963.9
Allele description [Variation Report for NM_000527.5(LDLR):c.438C>A (p.Leu146=)]
NM_000527.5(LDLR):c.438C>A (p.Leu146=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024