ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1518C>T (p.Ile506=) (rs104895099)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126736 SCV000170248 benign not specified 2012-08-30 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126736 SCV000696050 likely benign not specified 2020-08-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756330 SCV000884106 likely benign none provided 2019-11-27 criteria provided, single submitter clinical testing
Invitae RCV000030174 SCV001091493 likely benign Familial Mediterranean fever 2020-12-04 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000030174 SCV001571571 likely benign Familial Mediterranean fever 2020-10-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001532317 SCV001747824 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000030174 SCV000115792 not provided Familial Mediterranean fever no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001532317 SCV001932264 likely benign not provided no assertion criteria provided clinical testing

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