NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln) AND CEP290-related disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 8, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004529169.2
Allele description [Variation Report for NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)]
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln)
Condition(s)
- Name:
- CEP290-related disorder
- Synonyms:
- CEP290-Related Disorders; CEP290-related condition
- Identifiers:
- MedGen: CN239314
Assertion and evidence details
Last Updated: Nov 3, 2024