NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys) AND Autoinflammatory syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 24, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002264090.4
Allele description [Variation Report for NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)]
NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: Oct 20, 2024