NM_014336.5(AIPL1):c.970C>A (p.Arg324=) AND Leber congenital amaurosis 4
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jan 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001124294.10
Allele description [Variation Report for NM_014336.5(AIPL1):c.970C>A (p.Arg324=)]
NM_014336.5(AIPL1):c.970C>A (p.Arg324=)
Condition(s)
-
eggc.vipgeC (0)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024