NM_000252.3(MTM1):c.700G>C (p.Glu234Gln) AND Severe X-linked myotubular myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001419343.8
Allele description [Variation Report for NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)]
NM_000252.3(MTM1):c.700G>C (p.Glu234Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024