NM_000527.5(LDLR):c.441C>T (p.Thr147=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002212848.5
Allele description [Variation Report for NM_000527.5(LDLR):c.441C>T (p.Thr147=)]
NM_000527.5(LDLR):c.441C>T (p.Thr147=)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024