NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu) AND Progressive myoclonic epilepsy type 7
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 24, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001235546.8
Allele description [Variation Report for NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu)]
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024