ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.456G>A (p.Gly152=)

gnomAD frequency: 0.00003  dbSNP: rs368333568
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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 RCV001417548 SCV001619752 likely benign Familial Mediterranean fever 2023-12-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502861 SCV002798811 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-07-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001417548 SCV003802366 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127547 SCV003802368 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127548 SCV003802369 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001417548 SCV002087460 likely benign Familial Mediterranean fever 2020-03-07 no assertion criteria provided clinical testing

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