NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000775614.5
Allele description [Variation Report for NM_000527.5(LDLR):c.2301G>A (p.Met767Ile)]
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024