ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1344A>C (p.Ala448=)

gnomAD frequency: 0.00034  dbSNP: rs143337771
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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 RCV000939111 SCV001084948 likely benign Familial Mediterranean fever 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489258 SCV002803482 likely benign Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2021-11-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000939111 SCV003802153 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127549 SCV003802154 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127550 SCV003802155 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000939111 SCV001465375 likely benign Familial Mediterranean fever 2020-09-15 no assertion criteria provided clinical testing

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