NM_005359.6(SMAD4):c.70A>G (p.Met24Val) AND Heritable Thoracic Aortic Disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678042.1
Allele description [Variation Report for NM_005359.6(SMAD4):c.70A>G (p.Met24Val)]
NM_005359.6(SMAD4):c.70A>G (p.Met24Val)
Condition(s)
- Name:
- Heritable Thoracic Aortic Disease
- Identifiers:
- MedGen: CN868256
Assertion and evidence details
Last Updated: Jun 17, 2024