ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) (rs7348121)

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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 RCV000128132 SCV000605159 benign not specified 2016-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000254458 SCV000317374 benign Cardiovascular phenotype 2015-02-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770711 SCV000902188 benign Thoracic aortic aneurysm and aortic dissection 2016-03-18 criteria provided, single submitter clinical testing
GeneDx RCV000128132 SCV000171724 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.
Illumina Clinical Services Laboratory,Illumina RCV000363470 SCV000434174 likely benign Arterial tortuosity syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000363470 SCV000560123 benign Arterial tortuosity syndrome 2018-01-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128132 SCV000314734 benign not specified criteria provided, single submitter clinical testing

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