NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) AND Developmental and epileptic encephalopathy, 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002290848.2
Allele description [Variation Report for NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)]
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)
Condition(s)
Assertion and evidence details
Last Updated: Aug 4, 2024