NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) AND Retinitis pigmentosa 25
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 14, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002248812.2
Allele description [Variation Report for NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)]
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024