NM_021728.4(OTX2):c.*647A>G AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000326073.5
Allele description [Variation Report for NM_021728.4(OTX2):c.*647A>G]
NM_021728.4(OTX2):c.*647A>G
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Apr 9, 2023