ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.880dup (p.His294fs)

dbSNP: rs397989794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Northern Blood Research Centre, University of Sydney RCV000074460 SCV000108476 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000088665 SCV000121587 pathogenic Platelet-type bleeding disorder 17 2013-11-01 no assertion criteria provided literature only

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