NM_001164688.2(RD3):c.231G>A (p.Glu77=) AND Leber congenital amaurosis 12
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002090595.6
Allele description [Variation Report for NM_001164688.2(RD3):c.231G>A (p.Glu77=)]
NM_001164688.2(RD3):c.231G>A (p.Glu77=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024