NM_001429.4(EP300):c.2380-18T>C AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002592507.2
Allele description [Variation Report for NM_001429.4(EP300):c.2380-18T>C]
NM_001429.4(EP300):c.2380-18T>C
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024