NM_182894.3(VSX2):c.533G>A (p.Arg178Gln) AND Microphthalmia, isolated, with coloboma 3
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354772.5
Allele description [Variation Report for NM_182894.3(VSX2):c.533G>A (p.Arg178Gln)]
NM_182894.3(VSX2):c.533G>A (p.Arg178Gln)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024