ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1089C>T (p.Ser363=)

gnomAD frequency: 0.00002  dbSNP: rs104895170
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615290 SCV000720413 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000083682 SCV001018774 likely benign Familial Mediterranean fever 2023-08-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000083682 SCV003802204 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126417 SCV003802205 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126418 SCV003802206 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083682 SCV000115769 not provided Familial Mediterranean fever no assertion provided not provided

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