NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003510834.1
Allele description [Variation Report for NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)]
NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024