ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.833G>C (p.Arg278Pro)

dbSNP: rs104895187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262655 SCV002542306 uncertain significance Autoinflammatory syndrome 2018-02-06 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083799 SCV000115898 not provided Familial Mediterranean fever no assertion provided not provided

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