NM_000527.5(LDLR):c.1272C>T (p.Pro424=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741514.2
Allele description [Variation Report for NM_000527.5(LDLR):c.1272C>T (p.Pro424=)]
NM_000527.5(LDLR):c.1272C>T (p.Pro424=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024