NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn) AND Developmental and epileptic encephalopathy, 13
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003322638.1
Allele description [Variation Report for NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)]
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024