NM_130837.3(OPA1):c.556+1G>A AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000853262.1
Allele description [Variation Report for NM_130837.3(OPA1):c.556+1G>A]
NM_130837.3(OPA1):c.556+1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 10, 2023