ClinVar Miner

Submissions for variant NM_000132.3(F8):c.3864A>C (p.Ser1288=) (rs1800292)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243368 SCV000302442 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000033893 SCV000482095 benign Hereditary factor VIII deficiency disease 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000033893 SCV000603520 benign Hereditary factor VIII deficiency disease 2018-07-19 criteria provided, single submitter clinical testing
GeneReviews RCV000033893 SCV000057801 benign Hereditary factor VIII deficiency disease 2011-09-22 no assertion criteria provided curation Converted during submission to Benign.

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