NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) AND Stiff skin syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000305833.12
Allele description [Variation Report for NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)]
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024