NM_000527.5(LDLR):c.1188C>T (p.Gly396=) AND Familial hypercholesterolemia
- Germline classification:
- Likely benign (2 submissions)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001189128.7
Allele description [Variation Report for NM_000527.5(LDLR):c.1188C>T (p.Gly396=)]
NM_000527.5(LDLR):c.1188C>T (p.Gly396=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024