ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.2337G>C (p.Gly779=)

gnomAD frequency: 0.00005  dbSNP: rs104895153
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704008 SCV000279397 likely benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000083762 SCV001041716 likely benign Familial Mediterranean fever 2024-01-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704008 SCV002563299 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MEFV: BP4, BP7
Ambry Genetics RCV002444555 SCV002733004 likely benign Inborn genetic diseases 2022-01-05 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.
Genome-Nilou Lab RCV000083762 SCV003802189 uncertain significance Familial Mediterranean fever 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126465 SCV003802201 likely benign Familial Mediterranean fever, autosomal dominant 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003126466 SCV003802212 likely benign Acute febrile neutrophilic dermatosis 2023-02-08 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083762 SCV000115858 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083762 SCV002093867 likely benign Familial Mediterranean fever 2020-05-12 no assertion criteria provided clinical testing

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