NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) AND Developmental and epileptic encephalopathy 94
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000862528.15
Allele description [Variation Report for NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)]
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024