NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Dec 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000772516.7
Allele description [Variation Report for NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)]
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024