ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.808A>G (p.Asn270Asp)

gnomAD frequency: 0.00001  dbSNP: rs753623518
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090251 SCV001245676 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489726 SCV002793088 uncertain significance Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic dermatosis 2022-04-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127625 SCV003802266 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127626 SCV003802268 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003127627 SCV003802269 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing

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