ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6769A>G (p.Met2257Val) (rs1800297)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249262 SCV000302446 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000033894 SCV000482091 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000249262 SCV000539128 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 908/10563=8.59%
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000033894 SCV000883822 benign Hereditary factor VIII deficiency disease 2018-10-22 criteria provided, single submitter clinical testing
GeneReviews RCV000033894 SCV000057802 benign Hereditary factor VIII deficiency disease 2011-09-22 no assertion criteria provided curation Converted during submission to Benign.

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