NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Feb 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000772179.9
Allele description [Variation Report for NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)]
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024