NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000549615.15
Allele description [Variation Report for NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu)]
NM_182914.3(SYNE2):c.2026A>G (p.Lys676Glu)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024