NM_000138.5(FBN1):c.1602T>C (p.Cys534=) AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 5, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000600794.10
Allele description [Variation Report for NM_000138.5(FBN1):c.1602T>C (p.Cys534=)]
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
Assertion and evidence details
Last Updated: Mar 30, 2024