NM_001164688.2(RD3):c.102G>A (p.Thr34=) AND Leber congenital amaurosis 12
- Germline classification:
- Conflicting classifications of pathogenicity (2 submissions)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000909201.16
Allele description [Variation Report for NM_001164688.2(RD3):c.102G>A (p.Thr34=)]
NM_001164688.2(RD3):c.102G>A (p.Thr34=)
Condition(s)
Assertion and evidence details
Last Updated: Jan 19, 2025