NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) AND EYS-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003914789.1
Allele description [Variation Report for NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)]
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
Condition(s)
- Name:
- EYS-related disorder
- Synonyms:
- EYS-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Sep 29, 2024