NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) AND maculopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 23, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001002810.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)]
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
Condition(s)
- Name:
- maculopathy
- Identifiers:
Assertion and evidence details
Last Updated: Sep 1, 2024