ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) (rs117587497)

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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 RCV000756646 SCV000884525 benign not provided 2017-09-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245374 SCV000318105 likely benign Cardiovascular phenotype 2015-03-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000227382 SCV000744125 likely benign Arterial tortuosity syndrome 2017-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000128126 SCV000171718 benign not specified 2013-04-15 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,VU University Medical Center Amsterdam RCV000227382 SCV000745581 likely benign Arterial tortuosity syndrome 2014-12-14 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227382 SCV000434170 uncertain significance Arterial tortuosity syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227382 SCV000290946 benign Arterial tortuosity syndrome 2017-11-18 criteria provided, single submitter clinical testing

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