ClinVar Miner

Submissions for variant NM_000340.2(SLC2A2):c.*8del (p.Ter525=)

dbSNP: rs573575421
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244425 SCV000303713 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278027 SCV000442107 uncertain significance Fanconi-Bickel syndrome 2016-06-14 criteria provided, single submitter clinical testing

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