NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) AND Nemaline myopathy 2
- Germline classification:
- Conflicting classifications of pathogenicity (3 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001080562.17
Allele description [Variation Report for NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)]
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu)
Condition(s)
Assertion and evidence details
Last Updated: Jan 19, 2025