ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2049G>A (p.Ser683=)

gnomAD frequency: 0.00006  dbSNP: rs104895092
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000083734 SCV001077169 likely benign Familial Mediterranean fever 2024-01-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000131 SCV001156579 likely benign not specified 2019-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000083734 SCV001279831 uncertain significance Familial Mediterranean fever 2017-04-27 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001000131 SCV001519464 likely benign not specified 2021-03-14 criteria provided, single submitter clinical testing
GeneDx RCV001705808 SCV001900730 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262639 SCV002543730 uncertain significance Autoinflammatory syndrome 2021-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415584 SCV002728919 likely benign Inborn genetic diseases 2022-06-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083734 SCV000115827 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083734 SCV002093888 likely benign Familial Mediterranean fever 2020-01-27 no assertion criteria provided clinical testing

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