NM_000527.5(LDLR):c.613C>G (p.Leu205Val) AND Familial hypercholesterolemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003741192.2
Allele description [Variation Report for NM_000527.5(LDLR):c.613C>G (p.Leu205Val)]
NM_000527.5(LDLR):c.613C>G (p.Leu205Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024