NM_001429.4(EP300):c.156A>G (p.Glu52=) AND Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 22, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002736653.2
Allele description [Variation Report for NM_001429.4(EP300):c.156A>G (p.Glu52=)]
NM_001429.4(EP300):c.156A>G (p.Glu52=)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024