NC_000022.11:g.(?_29603989)_(29604122_?)del AND Neurofibromatosis, type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 8, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000819228.2
Allele description [Variation Report for NC_000022.11:g.(?_29603989)_(29604122_?)del]
NC_000022.11:g.(?_29603989)_(29604122_?)del
Condition(s)
- Name:
- Neurofibromatosis, type 2 (SWNV)
- Synonyms:
- NF 2; Neurofibromatosis central type; Acoustic schwannomas bilateral; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007039; MedGen: C0027832; Orphanet: 637; OMIM: 101000
Assertion and evidence details
Last Updated: Aug 5, 2023