NM_001079866.2(BCS1L):c.-53G>T AND Leigh syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000355262.5
Allele description [Variation Report for NM_001079866.2(BCS1L):c.-53G>T]
NM_001079866.2(BCS1L):c.-53G>T
Condition(s)
- Name:
- Leigh syndrome (LS)
- Synonyms:
- Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000
Assertion and evidence details
Last Updated: Oct 14, 2023