NM_013296.5(GPSM2):c.279-6T>C AND Chudley-McCullough syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001097696.4
Allele description [Variation Report for NM_013296.5(GPSM2):c.279-6T>C]
NM_013296.5(GPSM2):c.279-6T>C
Condition(s)
- Name:
- Chudley-McCullough syndrome (CMCS)
- Synonyms:
- Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, autosomal recessive 82
- Identifiers:
- MONDO: MONDO:0011411; MedGen: C1858695; Orphanet: 314597; OMIM: 604213
Assertion and evidence details
Last Updated: Apr 9, 2023