NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) AND Marfan syndrome, incomplete
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 1, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000148496.4
Allele description [Variation Report for NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)]
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)
Condition(s)
- Name:
- Marfan syndrome, incomplete
- Identifiers:
- MedGen: CN221598
Assertion and evidence details
Last Updated: Oct 20, 2024