NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) AND Emery-Dreifuss muscular dystrophy 5, autosomal dominant
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312549.13
Allele description [Variation Report for NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)]
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024