NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) AND Nemaline myopathy 2
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Jul 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000674788.7
Allele description [Variation Report for NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)]
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=)
Condition(s)
Assertion and evidence details
Last Updated: Jan 19, 2025