NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile) AND Myoclonic epilepsy, progressive, X-linked
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987798.1
Allele description [Variation Report for NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)]
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024