NM_003919.3(SGCE):c.391-3T>C AND Myoclonic dystonia 11
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000394405.14
Allele description [Variation Report for NM_003919.3(SGCE):c.391-3T>C]
NM_003919.3(SGCE):c.391-3T>C
Condition(s)
- Name:
- Myoclonic dystonia 11 (DYT11)
- Synonyms:
- Myoclonic dystonia; Dystonia 11; Dystonia, alcohol responsive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008044; MedGen: C1834570; Orphanet: 36899; OMIM: 159900
Assertion and evidence details
Last Updated: Sep 29, 2024