NM_000243.3(MEFV):c.2080A>G (p.Met694Val) AND Autoinflammatory syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002262539.10
Allele description [Variation Report for NM_000243.3(MEFV):c.2080A>G (p.Met694Val)]
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
Condition(s)
- Name:
- Autoinflammatory syndrome
- Identifiers:
- MONDO: MONDO:0019751; MedGen: C3890737
Assertion and evidence details
Last Updated: May 19, 2024