ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.*8G>A

gnomAD frequency: 0.00025  dbSNP: rs375282462
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436197 SCV000515875 likely benign not specified 2017-10-31 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485580 SCV004239693 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-02-16 criteria provided, single submitter clinical testing

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