ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)

gnomAD frequency: 0.00066  dbSNP: rs104895192
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916352 SCV001061588 likely benign Familial Mediterranean fever 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310310 SCV001500046 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264090 SCV002543738 uncertain significance Autoinflammatory syndrome 2021-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543438 SCV004772957 likely benign MEFV-related disorder 2020-02-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000916352 SCV004015003 uncertain significance Familial Mediterranean fever 2023-04-21 no assertion criteria provided clinical testing

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