NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG AND Aniridia, Cerebellar Ataxia, And Intellectual Disability
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000292766.14
Allele description [Variation Report for NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG]
NM_019040.5(ELP4):c.*1489_*1491delinsCATTTCTTTTAATCTGTG
Condition(s)
- Name:
- Aniridia, Cerebellar Ataxia, And Intellectual Disability
- Identifiers:
- MedGen: CN239197
Assertion and evidence details
Last Updated: Apr 15, 2024