ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.198C>T (p.Ala66=)

gnomAD frequency: 0.00009  dbSNP: rs149380763
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549424 SCV000629032 likely benign Familial Mediterranean fever 2024-01-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589254 SCV000696060 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000589254 SCV001157706 likely benign not specified 2018-10-24 criteria provided, single submitter clinical testing
GeneDx RCV001712489 SCV001939655 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263739 SCV002543727 uncertain significance Autoinflammatory syndrome 2019-02-01 criteria provided, single submitter clinical testing

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