NM_021728.4(OTX2):c.423C>A (p.Pro141=) AND Anophthalmia-microphthalmia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002116246.6
Allele description [Variation Report for NM_021728.4(OTX2):c.423C>A (p.Pro141=)]
NM_021728.4(OTX2):c.423C>A (p.Pro141=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024