ClinVar Miner

Submissions for variant NM_014239.4(EIF2B2):c.*3G>C

gnomAD frequency: 0.01958  dbSNP: rs112087431
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248911 SCV000312104 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356744 SCV000388723 likely benign Vanishing white matter disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000367065 SCV000483491 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248911 SCV000700395 likely benign not specified 2017-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703547 SCV005212583 likely benign not provided criteria provided, single submitter not provided

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