ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.37C>G (p.Leu13Val)

gnomAD frequency: 0.00090  dbSNP: rs139448379
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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 RCV001514888 SCV001722842 benign Familial Mediterranean fever 2023-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506609 SCV002798133 benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-03-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514888 SCV003802493 benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127984 SCV003802494 benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127985 SCV003802495 benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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