NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro) AND Pancytopenia due to IKZF1 mutations
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 2, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001706897.4
Allele description [Variation Report for NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)]
NM_006060.6(IKZF1):c.530T>C (p.Leu177Pro)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023