NM_172107.4(KCNQ2):c.2056A>G (p.Ile686Val) AND Early infantile epileptic encephalopathy with suppression bursts
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001344973.6
Allele description [Variation Report for NM_172107.4(KCNQ2):c.2056A>G (p.Ile686Val)]
NM_172107.4(KCNQ2):c.2056A>G (p.Ile686Val)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024