NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003788755.2
Allele description [Variation Report for NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser)]
NM_213599.3(ANO5):c.2075T>C (p.Leu692Ser)
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: Sep 29, 2024