NM_018122.5(DARS2):c.492+2T>C AND Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 4, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000194299.3
Allele description
NM_018122.5(DARS2):c.492+2T>C
Condition(s)
- Name:
- Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
- Identifiers:
- MedGen: CN230084
Assertion and evidence details
Last Updated: Feb 20, 2022