NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001323008.8
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu)]
NM_001330260.2(SCN8A):c.5430C>A (p.Asp1810Glu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024