NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 16, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001216747.9
Allele description [Variation Report for NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)]
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024