NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001052987.9
Allele description [Variation Report for NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)]
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Feb 20, 2024