NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) AND Kleefstra syndrome 1
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Apr 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808728.6
Allele description [Variation Report for NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter)]
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024