NM_206933.4(USH2A):c.5572+1G>A AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 17, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001073564.1
Allele description [Variation Report for NM_206933.4(USH2A):c.5572+1G>A]
NM_206933.4(USH2A):c.5572+1G>A
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Mar 16, 2024