ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) (rs34990188)

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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 RCV000755386 SCV000605164 benign not provided 2018-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000250258 SCV000317677 likely benign Cardiovascular phenotype 2015-09-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770703 SCV000902180 benign Thoracic aortic aneurysm and aortic dissection 2016-06-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128121 SCV000333257 likely benign not specified 2015-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000128121 SCV000171713 benign not specified 2013-02-21 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.
Invitae RCV000204064 SCV000261541 benign Arterial tortuosity syndrome 2017-12-21 criteria provided, single submitter clinical testing
PreventionGenetics RCV000128121 SCV000314736 benign not specified 2016-04-12 criteria provided, single submitter clinical testing

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