NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) AND Retinitis pigmentosa 25
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Feb 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376254.4
Allele description [Variation Report for NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)]
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024