NM_000100.4(CSTB):c.67-1G>C AND Unverricht-Lundborg syndrome
- Germline classification:
- Conflicting interpretations of pathogenicity (9 submissions)
- Last evaluated:
- Apr 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000008903.35
Allele description [Variation Report for NM_000100.4(CSTB):c.67-1G>C]
NM_000100.4(CSTB):c.67-1G>C
Condition(s)
- Name:
- Unverricht-Lundborg syndrome
- Synonyms:
- Epilepsy, progressive myoclonus 1; Myoclonic epilepsy of Unverricht and Lundborg; Epilepsy, progressive myoclonic type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009698; MedGen: C0751785; Orphanet: 308; OMIM: 254800
Assertion and evidence details
Last Updated: Jun 9, 2024