NM_170707.4(LMNA):c.1034T>C (p.Met345Thr) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003831575.1
Allele description [Variation Report for NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)]
NM_170707.4(LMNA):c.1034T>C (p.Met345Thr)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 2
- Synonyms:
- Charcot-Marie-Tooth, Type 2
- Identifiers:
- MONDO: MONDO:0018993; MedGen: C0270914
Assertion and evidence details
Last Updated: May 7, 2024