NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) AND Developmental and epileptic encephalopathy, 76
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001027972.7
Allele description [Variation Report for NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)]
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)
Condition(s)
Assertion and evidence details
Last Updated: Oct 7, 2023