NM_001429.4(EP300):c.157T>C (p.Leu53=) AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002520047.9
Allele description [Variation Report for NM_001429.4(EP300):c.157T>C (p.Leu53=)]
NM_001429.4(EP300):c.157T>C (p.Leu53=)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024