NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001339579.7
Allele description [Variation Report for NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)]
NM_172107.4(KCNQ2):c.1630T>C (p.Cys544Arg)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024