NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) AND Leber congenital amaurosis 8
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Oct 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250608.3
Assertion and evidence details
Last Updated: May 7, 2024