NM_001972.4(ELANE):c.442G>A (p.Gly148Arg) AND Autoinflammatory syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002262838.3
Allele description [Variation Report for NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)]
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: Mar 5, 2024