ClinVar Miner

Submissions for variant NM_001129820.2(SLFN14):c.657A>T (p.Lys219Asn)

dbSNP: rs869320715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210923 SCV000267587 pathogenic Platelet-type bleeding disorder 20 2023-11-02 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003529 SCV001161855 likely pathogenic Abnormal bleeding; Thrombocytopenia no assertion criteria provided research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000210923 SCV002515744 uncertain significance Platelet-type bleeding disorder 20 no assertion criteria provided research

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