ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.426G>C (p.Leu142=)

gnomAD frequency: 0.00001  dbSNP: rs1465332482
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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 RCV002113550 SCV002404597 likely benign Familial Mediterranean fever 2024-04-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499997 SCV002809164 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002113550 SCV003802383 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126158 SCV003802384 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126159 SCV003802385 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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