NM_000138.5(FBN1):c.1602T>C (p.Cys534=) AND MASS syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000392073.5
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)
Assertion and evidence details
Last Updated: Apr 20, 2024