NM_213599.3(ANO5):c.138+11A>G AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003799339.1
Allele description [Variation Report for NM_213599.3(ANO5):c.138+11A>G]
NM_213599.3(ANO5):c.138+11A>G
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 5, 2024