NM_213599.3(ANO5):c.1898+29G>T AND Gnathodiaphyseal dysplasia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002259750.1
Allele description [Variation Report for NM_213599.3(ANO5):c.1898+29G>T]
NM_213599.3(ANO5):c.1898+29G>T
Condition(s)
- Name:
- Gnathodiaphyseal dysplasia (GDD)
- Synonyms:
- GNATHODIAPHYSEAL SCLEROSIS; Osteogenesis imperfecta Levin type; Levin syndrome 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008151; MedGen: C1833736; OMIM: 166260
Assertion and evidence details
Last Updated: Mar 10, 2024