NM_001972.4(ELANE):c.744C>G (p.Arg248=) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001796435.14
Allele description [Variation Report for NM_001972.4(ELANE):c.744C>G (p.Arg248=)]
NM_001972.4(ELANE):c.744C>G (p.Arg248=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024