NM_000527.5(LDLR):c.90C>T (p.Asn30=) AND Familial hypercholesterolemia
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Feb 2, 2025
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001081718.13
Allele description [Variation Report for NM_000527.5(LDLR):c.90C>T (p.Asn30=)]
NM_000527.5(LDLR):c.90C>T (p.Asn30=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 25, 2025