NM_018418.5(SPATA7):c.1425G>A (p.Leu475=) AND Leber congenital amaurosis 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003046305.2
Allele description [Variation Report for NM_018418.5(SPATA7):c.1425G>A (p.Leu475=)]
NM_018418.5(SPATA7):c.1425G>A (p.Leu475=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024