ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1760-30T>A (rs1231123)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000508086 SCV000604161 benign none provided 2020-09-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001355109 SCV001549895 uncertain significance not provided no assertion criteria provided clinical testing multiple AR variants in same gene - keep for nowAllele frequency is common in at least one population database (frequency: 46.51% in ExAC) based on the frequency threshold of 1.904% for this gene.Variant was observed in a homozygous state in population databases more than expected for disease.1 reputable source/s reports the variant as benign, but the evidence is not available to the laboratory to perform an independent evaluation.

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