NM_000527.5(LDLR):c.2381T>A (p.Leu794His) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 18, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003022818.2
Allele description [Variation Report for NM_000527.5(LDLR):c.2381T>A (p.Leu794His)]
NM_000527.5(LDLR):c.2381T>A (p.Leu794His)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024