NM_005902.4(SMAD3):c.431_432del (p.Thr144fs) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 3, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799327.2
Allele description [Variation Report for NM_005902.4(SMAD3):c.431_432del (p.Thr144fs)]
NM_005902.4(SMAD3):c.431_432del (p.Thr144fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023