ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1587+18C>T (rs11466030)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514976 SCV000610120 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000514976 SCV000696051 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing Variant summary: The MEFV c.1587+18C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 375/120722 control chromosomes (5 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0311653 (322/10332). This frequency is slightly above the estimated maximal expected allele frequency of a pathogenic MEFV variant (0.0216506), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Based on high frequency in controls and in silico splicing predictions, this variant was classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001001398 SCV001158605 benign none provided 2020-06-08 criteria provided, single submitter clinical testing
Invitae RCV001519190 SCV001728016 benign Familial Mediterranean fever 2020-11-26 criteria provided, single submitter clinical testing

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