ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1759+8C>T

gnomAD frequency: 0.00321  dbSNP: rs77380520
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Total submissions: 12
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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.
Eurofins Ntd Llc (ga) RCV000180116 SCV000232493 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811211 SCV000604167 benign not provided 2023-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000030176 SCV000629027 benign Familial Mediterranean fever 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262584 SCV002543720 benign Autoinflammatory syndrome 2022-03-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000030176 SCV003802050 likely benign Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003125841 SCV003802051 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003125842 SCV003802052 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
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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