ClinVar Miner

Submissions for variant NM_000504.4(F10):c.424G>A (p.Glu142Lys) (rs61753266)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000602474 SCV000730666 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000012841 SCV000899731 uncertain significance Factor X deficiency 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852124 SCV000899732 uncertain significance Abnormal bleeding 2019-02-01 criteria provided, single submitter research
OMIM RCV000012841 SCV000033081 pathogenic Factor X deficiency 1995-08-01 no assertion criteria provided literature only

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