NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Benign (2 submissions)
- 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:
- RCV000542636.15
Allele description [Variation Report for NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)]
NM_182914.3(SYNE2):c.10835A>G (p.Gln3612Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024