NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001177396.4
Allele description [Variation Report for NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)]
NM_000138.5(FBN1):c.6590A>C (p.Glu2197Ala)
Condition(s)
Assertion and evidence details
Last Updated: Nov 3, 2024