NM_021728.4(OTX2):c.142C>T (p.Arg48Trp) AND Anophthalmia-microphthalmia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003047272.2
Allele description [Variation Report for NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)]
NM_021728.4(OTX2):c.142C>T (p.Arg48Trp)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024