NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) AND Myopathy, centronuclear, 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000791155.4
Allele description [Variation Report for NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)]
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024