NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) AND Leber congenital amaurosis 8
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003454793.2
Allele description [Variation Report for NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)]
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024