NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) AND Leber congenital amaurosis 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986327.1
Allele description [Variation Report for NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)]
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024