ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1587+33C>G (rs146820856)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507626 SCV000604175 benign none provided 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727205 SCV000706601 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000727205 SCV000975438 likely benign not provided 2018-06-16 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.
Invitae RCV000084150 SCV001717441 benign Familial Mediterranean fever 2020-11-21 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084150 SCV000116281 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV001274312 SCV001458299 benign Familial mediterranean fever, autosomal dominant 2020-06-04 no assertion criteria provided clinical testing

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