NM_001429.4(EP300):c.94+19G>A AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002681439.2
Allele description [Variation Report for NM_001429.4(EP300):c.94+19G>A]
NM_001429.4(EP300):c.94+19G>A
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024