NM_019098.5(CNGB3):c.*291T>A AND Severe early-childhood-onset retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001162208.4
Allele description [Variation Report for NM_019098.5(CNGB3):c.*291T>A]
NM_019098.5(CNGB3):c.*291T>A
Condition(s)
- Name:
- Severe early-childhood-onset retinal dystrophy (STGD1)
- Synonyms:
- MACULAR DYSTROPHY WITH FLECKS, TYPE 1; STGD; Stargardt macular dystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009549; MeSH: D000080362; MedGen: C1855465; Orphanet: 827; OMIM: 248200
Assertion and evidence details
Last Updated: Jul 16, 2023