ClinVar Miner

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

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Total submissions: 6
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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 RCV001375846 SCV000899731 uncertain significance Hereditary factor X deficiency disease 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
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091746 SCV001247952 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000012841 SCV001271113 uncertain significance Factor X deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM RCV000012841 SCV000033081 pathogenic Factor X deficiency 1995-08-01 no assertion criteria provided literature only

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