NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) AND Developmental and epileptic encephalopathy, 26
- Germline classification:
- Pathogenic/Likely pathogenic (4 submissions)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000528443.12
Allele description [Variation Report for NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)]
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 14, 2024