NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) AND X-linked Emery-Dreifuss muscular dystrophy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001903735.8
Allele description [Variation Report for NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)]
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024