ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.2118G>A (p.Pro706=) (rs2234939)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030181 SCV000052843 likely benign Familial Mediterranean fever 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics,PreventionGenetics RCV000250856 SCV000303122 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000030181 SCV000629036 benign Familial Mediterranean fever 2020-12-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283714 SCV000884104 benign none provided 2020-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030181 SCV001279829 uncertain significance Familial Mediterranean fever 2018-02-13 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001705606 SCV001891320 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000250856 SCV001932115 benign not specified no assertion criteria provided clinical testing

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