NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn) AND Severe X-linked myotubular myopathy
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Nov 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001051781.7
Allele description [Variation Report for NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)]
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024