NM_001365088.1(SLC12A6):c.*2088C>T AND Agenesis of the corpus callosum with peripheral neuropathy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000285013.5
Allele description [Variation Report for NM_001365088.1(SLC12A6):c.*2088C>T]
NM_001365088.1(SLC12A6):c.*2088C>T
Condition(s)
- Name:
- Agenesis of the corpus callosum with peripheral neuropathy (ACCPN)
- Synonyms:
- Andermann syndrome; Charlevoix disease; Corpus callosum agenesis neuronopathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0000902; MedGen: C0795950; Orphanet: 1496; OMIM: 218000
Assertion and evidence details
Last Updated: Apr 9, 2023