NM_004183.4(BEST1):c.682G>C (p.Asp228His) AND Autosomal dominant vitreoretinochoroidopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 22, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002250720.1
Allele description [Variation Report for NM_004183.4(BEST1):c.682G>C (p.Asp228His)]
NM_004183.4(BEST1):c.682G>C (p.Asp228His)
Condition(s)
- Name:
- Autosomal dominant vitreoretinochoroidopathy
- Synonyms:
- VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT; Vitreoretinochoroidopathy dominant; VRCP autosomal dominant; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008662; MedGen: C3888099; Orphanet: 263347; Orphanet: 3086; OMIM: 193220
Assertion and evidence details
Last Updated: Feb 20, 2024