ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.656dup (p.Ala220fs)

dbSNP: rs774061491
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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 RCV002262068 SCV002542297 likely pathogenic Autoinflammatory syndrome 2019-07-01 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989761 SCV004808256 uncertain significance Familial Mediterranean fever 2024-03-29 criteria provided, single submitter clinical testing

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