ClinVar Miner

Submissions for variant NM_000243.3(MEFV):c.1760-28T>A

gnomAD frequency: 0.00022  dbSNP: rs104895169
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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 RCV001701499 SCV001158604 benign not provided 2021-07-09 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083709 SCV000115801 not provided Familial Mediterranean fever no assertion provided not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701499 SCV001927837 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701499 SCV001969464 likely benign not provided no assertion criteria provided clinical testing

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