ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1288+10G>A (rs76315093)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000128125 SCV000605157 benign not specified 2015-12-01 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000205809 SCV000744124 benign Arterial tortuosity syndrome 2017-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000128125 SCV000171717 benign not specified 2013-02-01 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000205809 SCV000743112 benign Arterial tortuosity syndrome 2014-10-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205809 SCV000434166 uncertain significance Arterial tortuosity syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205809 SCV000262137 benign Arterial tortuosity syndrome 2017-08-08 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128125 SCV000314728 benign not specified criteria provided, single submitter clinical testing

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