ClinVar Miner

Submissions for variant NM_004836.6(EIF2AK3):c.-201A>G

gnomAD frequency: 0.00671  dbSNP: rs144057685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000354079 SCV000432462 uncertain significance Wolcott-Rallison dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501083 SCV000594529 uncertain significance not specified 2017-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422325 SCV004155169 benign not provided 2023-06-01 criteria provided, single submitter clinical testing EIF2AK3: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003422325 SCV005187800 uncertain significance not provided criteria provided, single submitter not provided

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