ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.845T>C (p.Leu282Pro) (rs886045529)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000370916 SCV000350512 uncertain significance Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273956 SCV000350513 uncertain significance Thiamine-responsive megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing

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