NM_030973.4(MED25):c.2026C>A (p.Pro676Thr) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 31, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000699931.5
Allele description [Variation Report for NM_030973.4(MED25):c.2026C>A (p.Pro676Thr)]
NM_030973.4(MED25):c.2026C>A (p.Pro676Thr)
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: Feb 7, 2023