NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001059934.7
Allele description [Variation Report for NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)]
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024