NM_030962.4(SBF2):c.3651C>T (p.Ala1217=) AND Charcot-Marie-Tooth disease type 4
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000536043.6
Allele description [Variation Report for NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)]
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)
Condition(s)
- Name:
- Charcot-Marie-Tooth disease type 4
- Synonyms:
- Charcot-Marie-Tooth, Type 4
- Identifiers:
- MONDO: MONDO:0018995; MedGen: C4082197
Assertion and evidence details
Last Updated: Feb 28, 2024