NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) AND Age related macular degeneration 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198384.3
Allele description [Variation Report for NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)]
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
Condition(s)
Assertion and evidence details
Last Updated: Aug 18, 2024