ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.195C>T (p.Tyr65=)

gnomAD frequency: 0.00003  dbSNP: rs104895077
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587862 SCV000696059 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Invitae RCV000083726 SCV000753989 likely benign Familial Mediterranean fever 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705807 SCV001474343 benign not provided 2020-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001705807 SCV001885564 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9668175)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262638 SCV002543726 uncertain significance Autoinflammatory syndrome 2021-10-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705807 SCV004010447 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing MEFV: BP4, BP7
Ambry Genetics RCV003352768 SCV004051490 likely benign Inborn genetic diseases 2023-08-29 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 RCV000083726 SCV000115819 not provided Familial Mediterranean fever no assertion provided not provided
Natera, Inc. RCV000083726 SCV002087479 likely benign Familial Mediterranean fever 2020-02-07 no assertion criteria provided clinical testing

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