NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp) AND Rubinstein-Taybi syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002610282.2
Allele description [Variation Report for NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)]
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024