ClinVar Miner

Submissions for variant NM_014239.4(EIF2B2):c.*56C>T

gnomAD frequency: 0.01153  dbSNP: rs116393177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331175 SCV000388725 likely benign Vanishing white matter disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000275001 SCV000483492 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing

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