NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001295230.6
Allele description [Variation Report for NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)]
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024