ClinVar Miner

Submissions for variant NM_002017.5(FLI1):c.992_995del (p.Asn331fs) (rs1064797085)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000487462 SCV000574549 pathogenic Bleeding disorder, platelet-type, 21 2017-04-25 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003905 SCV001161840 likely pathogenic Thrombocytopenia no assertion criteria provided research
Birmingham Platelet Group; University of Birmingham RCV001270513 SCV001450812 pathogenic Abnormal bleeding; Thrombocytopenia 2020-05-01 no assertion criteria provided research

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