NM_001164688.2(RD3):c.516C>T (p.Asp172=) AND Leber congenital amaurosis 12
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003626294.2
Allele description [Variation Report for NM_001164688.2(RD3):c.516C>T (p.Asp172=)]
NM_001164688.2(RD3):c.516C>T (p.Asp172=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024