NM_016204.4(GDF2):c.484C>A (p.Pro162Thr) AND Telangiectasia, hereditary hemorrhagic, type 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001842245.1
Allele description [Variation Report for NM_016204.4(GDF2):c.484C>A (p.Pro162Thr)]
NM_016204.4(GDF2):c.484C>A (p.Pro162Thr)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023