NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=) AND Early myoclonic encephalopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000559734.9
Allele description [Variation Report for NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=)]
NM_032776.3(JMJD1C):c.3565T>C (p.Leu1189=)
Condition(s)
- Name:
- Early myoclonic encephalopathy
- Identifiers:
- MONDO: MONDO:0016022; MedGen: C0270855
Assertion and evidence details
Last Updated: Feb 28, 2024