ClinVar Miner

Submissions for variant NM_000243.2(MEFV):c.1759+8C>T (rs77380520)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000180116 SCV000170249 benign not specified 2011-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180116 SCV000232493 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283715 SCV000604167 benign none provided 2020-08-31 criteria provided, single submitter clinical testing
Invitae RCV000030176 SCV000629027 benign Familial Mediterranean fever 2020-12-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030176 SCV001274393 likely benign Familial Mediterranean fever 2018-04-13 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030176 SCV000052836 benign Familial Mediterranean fever 2011-05-23 no assertion criteria provided clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000030176 SCV000115800 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000030176 SCV001462104 benign Familial Mediterranean fever 2020-09-16 no assertion criteria provided clinical testing

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