ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1956C>A (p.Arg652=)

dbSNP: rs104895084
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262637 SCV002543725 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083725 SCV004650601 likely benign Familial Mediterranean fever 2023-04-20 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083725 SCV000115817 not provided Familial Mediterranean fever no assertion provided not provided

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