NM_005263.5(GFI1):c.532G>A (p.Gly178Arg) AND Neutropenia, severe congenital, 2, autosomal dominant
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 25, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002044344.3
Allele description [Variation Report for NM_005263.5(GFI1):c.532G>A (p.Gly178Arg)]
NM_005263.5(GFI1):c.532G>A (p.Gly178Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024