NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg) AND Developmental and epileptic encephalopathy, 69
- Germline classification:
- Pathogenic/Likely pathogenic (6 submissions)
- Last evaluated:
- Oct 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000754086.14
Allele description [Variation Report for NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)]
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024