NM_000399.5(EGR2):c.*456G>A AND Charcot-Marie-Tooth disease type 1D
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000313000.5
Allele description [Variation Report for NM_000399.5(EGR2):c.*456G>A]
NM_000399.5(EGR2):c.*456G>A
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 1D
- Synonyms:
- CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1D; HMSN ID; CMT 1D; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011890; MedGen: C1843247; Orphanet: 101084; OMIM: 607678
Assertion and evidence details
Last Updated: Apr 9, 2023