NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) AND Charcot-Marie-Tooth disease type 2
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000560796.11
Allele description [Variation Report for NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)]
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=)
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: Jun 17, 2024