NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) AND Senior-Loken syndrome 6
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Jul 14, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000320212.9
Allele description [Variation Report for NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)]
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
Condition(s)
Assertion and evidence details
Last Updated: May 12, 2024