NM_005506.4(SCARB2):c.228C>T (p.Leu76=) AND Progressive myoclonic epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000532777.11
Allele description [Variation Report for NM_005506.4(SCARB2):c.228C>T (p.Leu76=)]
NM_005506.4(SCARB2):c.228C>T (p.Leu76=)
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: Oct 13, 2024