NM_001371596.2(MFSD8):c.754+1G>A AND Macular dystrophy with central cone involvement
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001706719.3
Allele description [Variation Report for NM_001371596.2(MFSD8):c.754+1G>A]
NM_001371596.2(MFSD8):c.754+1G>A
Condition(s)
Assertion and evidence details
Last Updated: Jun 17, 2024