NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys) AND Nemaline myopathy 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 25, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000641366.6
Allele description [Variation Report for NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys)]
NM_001164508.2(NEB):c.2122G>A (p.Glu708Lys)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024