ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1401G>A (p.Glu467=)

gnomAD frequency: 0.00001  dbSNP: rs1398639205
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500707 SCV001705502 likely benign Familial Mediterranean fever 2023-12-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495762 SCV002795246 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-03-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001500707 SCV003802140 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127975 SCV003802141 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127976 SCV003802142 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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