NM_016204.4(GDF2):c.1172C>T (p.Ala391Val) AND Telangiectasia, hereditary hemorrhagic, type 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003581405.1
Allele description [Variation Report for NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)]
NM_016204.4(GDF2):c.1172C>T (p.Ala391Val)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024