ClinVar Miner

Submissions for variant NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) (rs80358229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004847 SCV000025023 pathogenic Arterial tortuosity syndrome 2006-04-01 no assertion criteria provided literature only
GeneReviews RCV000004847 SCV000195660 pathogenic Arterial tortuosity syndrome 2014-09-10 no assertion criteria provided literature only
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000004847 SCV001439350 pathogenic Arterial tortuosity syndrome 2020-09-25 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579411 SCV001807135 pathogenic not provided no assertion criteria provided clinical testing

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