NM_000527.5(LDLR):c.413C>T (p.Ser138Leu) AND LDLR-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003901451.1
Allele description [Variation Report for NM_000527.5(LDLR):c.413C>T (p.Ser138Leu)]
NM_000527.5(LDLR):c.413C>T (p.Ser138Leu)
Condition(s)
- Name:
- LDLR-related disorder
- Synonyms:
- LDLR-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024