NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002843885.2
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)]
NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024