NM_005359.6(SMAD4):c.*5535_*5549delinsG AND Telangiectasia, hereditary hemorrhagic, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000263272.5
Allele description [Variation Report for NM_005359.6(SMAD4):c.*5535_*5549delinsG]
NM_005359.6(SMAD4):c.*5535_*5549delinsG
Condition(s)
Assertion and evidence details
Last Updated: Aug 5, 2023