NM_014874.4(MFN2):c.975C>T (p.Gly325=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jan 23, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000473692.15
Allele description [Variation Report for NM_014874.4(MFN2):c.975C>T (p.Gly325=)]
NM_014874.4(MFN2):c.975C>T (p.Gly325=)
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 20, 2024