ClinVar Miner

Submissions for variant NM_006996.3(SLC19A2):c.796G>A (p.Val266Met) (rs75099879)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000272929 SCV000350516 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 RCV000325732 SCV000350517 uncertain significance Thiamine-responsive megaloblastic anemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000440688 SCV000518818 benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445536 SCV000536953 uncertain significance Monogenic diabetes 2015-04-07 criteria provided, single submitter research
Invitae RCV000894413 SCV001038397 benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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