NM_000138.5(FBN1):c.2683A>G (p.Ile895Val) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001176116.4
Allele description [Variation Report for NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)]
NM_000138.5(FBN1):c.2683A>G (p.Ile895Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024