NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003855702.1
Allele description [Variation Report for NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)]
NM_182914.3(SYNE2):c.10262G>A (p.Arg3421Gln)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024