ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1458C>T (p.Asp486=)

gnomAD frequency: 0.00011  dbSNP: rs147767925
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507087 SCV000604180 likely benign not specified 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV000908449 SCV001053214 likely benign Familial Mediterranean fever 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263714 SCV002543401 uncertain significance Autoinflammatory syndrome 2021-02-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395226 SCV002699906 likely benign Inborn genetic diseases 2020-09-28 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.

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