NM_000252.3(MTM1):c.1521A>G (p.Glu507=) AND Severe X-linked myotubular myopathy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002073948.5
Allele description [Variation Report for NM_000252.3(MTM1):c.1521A>G (p.Glu507=)]
NM_000252.3(MTM1):c.1521A>G (p.Glu507=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024