NM_000243.3(MEFV):c.2040G>A (p.Met680Ile) AND Familial Mediterranean fever, autosomal dominant
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Mar 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001283820.19
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)
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001984411 | 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: SCV001984411 appears to be redundant with SCV002818286. (ACMG Guidelines, 2015) | Pathogenic (Jul 16, 2020) | germline | clinical testing |
Last Updated: Oct 13, 2024