NM_153427.2(PITX2):c.-1335C>A AND Hypoplasia of the iris
- Germline classification:
- Likely benign (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:
- RCV001146659.13
Allele description [Variation Report for NM_153427.2(PITX2):c.-1335C>A]
NM_153427.2(PITX2):c.-1335C>A
Condition(s)
- Name:
- Hypoplasia of the iris
- Identifiers:
- MedGen: C0344539; Human Phenotype Ontology: HP:0007676
Assertion and evidence details
Last Updated: Apr 20, 2024