NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) AND Isolated microphthalmia 2
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Aug 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015987.27
Allele description [Variation Report for NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)]
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024