NM_000329.3(RPE65):c.1454T>C (p.Val485Ala) AND Leber congenital amaurosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 14, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001278133.1
Allele description [Variation Report for NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)]
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)
Condition(s)
Assertion and evidence details
Last Updated: Nov 5, 2022