ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1770G>A (p.Leu590=)

gnomAD frequency: 0.00014  dbSNP: rs139692347
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828867 SCV000970569 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001471489 SCV001675594 likely benign Familial Mediterranean fever 2024-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001471489 SCV003802037 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127483 SCV003802038 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127484 SCV003802039 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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