NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp) AND Early myoclonic encephalopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 10, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000544488.9
Allele description [Variation Report for NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp)]
NM_032776.3(JMJD1C):c.56T>A (p.Val19Asp)
Condition(s)
- Name:
- Early myoclonic encephalopathy
- Identifiers:
- MONDO: MONDO:0016022; MedGen: C0270855
Assertion and evidence details
Last Updated: Mar 16, 2024