ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) (rs104895127)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000083793 SCV001139878 uncertain significance Familial Mediterranean fever 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172095 SCV001335041 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083793 SCV000115891 not provided Familial Mediterranean fever no assertion provided not provided
OMIM RCV001174523 SCV001337663 pathogenic Acute febrile neutrophilic dermatosis 2020-06-15 no assertion criteria provided literature only
OMIM RCV000083793 SCV001337664 pathogenic Familial Mediterranean fever 2020-06-15 no assertion criteria provided literature only

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