NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) AND Weill-Marchesani syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Feb 2, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000286405.13
Allele description [Variation Report for NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)]
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024