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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756104 SCV000883822 benign not provided 2017-06-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000344710 SCV000482091 benign Hemophilia A, FVIII Deficiency 2016-06-14 criteria provided, single submitter clinical testing
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%
PreventionGenetics RCV000249262 SCV000302446 benign not specified criteria provided, single submitter clinical testing

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