NM_030973.4(MED25):c.603G>C (p.Pro201=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002539200.10
Allele description [Variation Report for NM_030973.4(MED25):c.603G>C (p.Pro201=)]
NM_030973.4(MED25):c.603G>C (p.Pro201=)
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: Oct 13, 2024