NM_000350.3(ABCA4):c.6729+5_6729+19del AND Cone-rod dystrophy 3
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000416441.2
Allele description [Variation Report for NM_000350.3(ABCA4):c.6729+5_6729+19del]
NM_000350.3(ABCA4):c.6729+5_6729+19del
Condition(s)
Assertion and evidence details
Last Updated: Sep 8, 2024