ClinVar Miner

Submissions for variant NM_173477.5(USH1G):c.832_851del (p.Ser278fs) (rs397515345)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000003050 SCV000782532 pathogenic Usher syndrome, type 1G 2016-11-28 criteria provided, single submitter clinical testing
OMIM RCV000003050 SCV000023208 pathogenic Usher syndrome, type 1G 2003-03-01 no assertion criteria provided literature only
GeneReviews RCV000003050 SCV000087060 pathologic Usher syndrome, type 1G 2013-06-20 no assertion criteria provided curation Converted during submission to Pathogenic.
GeneReviews RCV000216021 SCV000268763 pathogenic Usher syndrome type 1 2016-05-19 no assertion criteria provided literature only
Hereditary Research Laboratory,Bethlehem University RCV000003050 SCV000538130 pathogenic Usher syndrome, type 1G 2016-06-04 no assertion criteria provided research profound w/retinitis pigmentosum

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