NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly) AND Leber congenital amaurosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 15, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001830418.1
Allele description [Variation Report for NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)]
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024