ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1899G>A (p.Pro633=)

gnomAD frequency: 0.00001  dbSNP: rs776315170
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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 RCV000977151 SCV001125065 likely benign Familial Mediterranean fever 2023-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503116 SCV002808067 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-12-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000977151 SCV003801994 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127559 SCV003802005 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127560 SCV003802009 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000977151 SCV002087375 likely benign Familial Mediterranean fever 2020-10-24 no assertion criteria provided clinical testing

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