NM_001330691.3(CEP78):c.1424del (p.Val475fs) AND Cone-rod dystrophy and hearing loss 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376466.3
Allele description [Variation Report for NM_001330691.3(CEP78):c.1424del (p.Val475fs)]
NM_001330691.3(CEP78):c.1424del (p.Val475fs)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024