ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1533G>A (p.Ala511=)

gnomAD frequency: 0.00003  dbSNP: rs771061550
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001453535 SCV001657230 likely benign Familial Mediterranean fever 2024-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506530 SCV002808034 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001453535 SCV003802091 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127921 SCV003802092 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127922 SCV003802093 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005237825 SCV005884849 likely benign not specified 2024-12-06 criteria provided, single submitter clinical testing

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