NM_004287.5(GOSR2):c.94+7A>C AND Progressive myoclonic epilepsy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000862008.9
Allele description [Variation Report for NM_004287.5(GOSR2):c.94+7A>C]
NM_004287.5(GOSR2):c.94+7A>C
Condition(s)
- Name:
- Progressive myoclonic epilepsy
- Synonyms:
- Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800
Assertion and evidence details
Last Updated: Sep 29, 2024