NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) AND Familial hypercholesterolemia
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000775082.15
Allele description [Variation Report for NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)]
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
Condition(s)
Assertion and evidence details
Last Updated: Aug 11, 2024