NM_000329.3(RPE65):c.1339-1G>C AND Leber congenital amaurosis 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003466246.1
Allele description [Variation Report for NM_000329.3(RPE65):c.1339-1G>C]
NM_000329.3(RPE65):c.1339-1G>C
Condition(s)
Assertion and evidence details
Last Updated: Dec 30, 2023