NM_001271208.2(NEB):c.1953G>A (p.Glu651=) AND Nemaline Myopathy, Recessive
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000398168.1
Allele description
NM_001271208.2(NEB):c.1953G>A (p.Glu651=)
Condition(s)
- Name:
- Nemaline Myopathy, Recessive
- Identifiers:
- MedGen: CN239479
Assertion and evidence details
Last Updated: May 4, 2020