NM_000138.5(FBN1):c.2449A>G (p.Ile817Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003163851.2
Allele description [Variation Report for NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)]
NM_000138.5(FBN1):c.2449A>G (p.Ile817Val)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024