NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val) AND Hypercholesterolemia, autosomal dominant, 3
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Aug 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001099460.6
Allele description [Variation Report for NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)]
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 1, 2024