NM_004380.3(CREBBP):c.6013C>T (p.Pro2005Ser) AND Menke-Hennekam syndrome 1
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002288313.2
Allele description [Variation Report for NM_004380.3(CREBBP):c.6013C>T (p.Pro2005Ser)]
NM_004380.3(CREBBP):c.6013C>T (p.Pro2005Ser)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024