NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003754106.2
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg)]
NM_001330260.2(SCN8A):c.5633C>G (p.Pro1878Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024