NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) AND Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000144162.8
Allele description [Variation Report for NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)]
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
Condition(s)
Assertion and evidence details
Last Updated: Feb 4, 2024