NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala) AND Leber congenital amaurosis 8
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250640.1
Allele description [Variation Report for NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)]
NM_201253.3(CRB1):c.2549G>C (p.Gly850Ala)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022