NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln) AND Emery-Dreifuss muscular dystrophy 4, autosomal dominant
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000311509.5
Allele description [Variation Report for NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)]
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024