NM_000020.3(ACVRL1):c.*120G>A AND Telangiectasia, hereditary hemorrhagic, type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000329601.5
Allele description [Variation Report for NM_000020.3(ACVRL1):c.*120G>A]
NM_000020.3(ACVRL1):c.*120G>A
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023