NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys) AND Nemaline myopathy 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 26, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002815159.2
Allele description [Variation Report for NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)]
NM_001164508.2(NEB):c.17842G>A (p.Glu5948Lys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024