NM_001164688.2(RD3):c.207C>G (p.Ser69=) AND Leber congenital amaurosis 12
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 13, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002806665.3
Allele description [Variation Report for NM_001164688.2(RD3):c.207C>G (p.Ser69=)]
NM_001164688.2(RD3):c.207C>G (p.Ser69=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024