NM_000117.3(EMD):c.129C>T (p.Thr43=) AND X-linked Emery-Dreifuss muscular dystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001481265.8
Allele description [Variation Report for NM_000117.3(EMD):c.129C>T (p.Thr43=)]
NM_000117.3(EMD):c.129C>T (p.Thr43=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024