NM_000399.5(EGR2):c.1242G>A (p.Lys414=) AND Charcot-Marie-Tooth disease
- Germline classification:
- Likely benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001173239.8
Allele description [Variation Report for NM_000399.5(EGR2):c.1242G>A (p.Lys414=)]
NM_000399.5(EGR2):c.1242G>A (p.Lys414=)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024