NM_032609.3(COX4I2):c.430C>G (p.Leu144Val) AND Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000276238.1
Assertion and evidence details
Last Updated: Apr 18, 2020