NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) AND Rubinstein-Taybi syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- May 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002539567.3
Allele description [Variation Report for NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)]
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024