ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1779T>A (p.Ala593=)

gnomAD frequency: 0.00003  dbSNP: rs377657099
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000585564 SCV000692831 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001401924 SCV001603762 likely benign Familial Mediterranean fever 2023-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000585564 SCV001846215 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263816 SCV002543722 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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