NC_000008.10:g.(?_117647788)_(120797526_?)dup AND Multiple congenital exostosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003119346.3
Allele description [Variation Report for NC_000008.10:g.(?_117647788)_(120797526_?)dup]
NC_000008.10:g.(?_117647788)_(120797526_?)dup
Condition(s)
- Name:
- Multiple congenital exostosis (EXT)
- Synonyms:
- MULTIPLE CARTILAGINOUS EXOSTOSES; Hereditary multiple osteochondromas; Multiple exostoses; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0005508; MedGen: C0015306; Orphanet: 321; OMIM: PS133700; Human Phenotype Ontology: HP:0002762
Assertion and evidence details
Last Updated: Mar 30, 2024