NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND multiple conditions
- Germline classification:
- no classifications from unflagged records (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001269325.12
Allele description [Variation Report for NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)]
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
Condition(s)
- Name:
- Familial Mediterranean fever (FMF)
- Synonyms:
- POLYSEROSITIS, FAMILIAL PAROXYSMAL; POLYSEROSITIS, RECURRENT; Periodic peritonitis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018088; MedGen: C0031069; Orphanet: 342; OMIM: 249100
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001448265 | Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | flagged submission Reason: This record appears to be redundant with a more recent record from the same submitter. Notes: SCV001448265 appears to be redundant with SCV002818286. (ACMG Guidelines, 2015) | Pathogenic (Oct 4, 2020) | germline | clinical testing |
Last Updated: Oct 13, 2024