ClinVar Miner

Submissions for variant NM_000132.3(F8):c.3780C>G (p.Asp1260Glu) (rs1800291)

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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 RCV000251553 SCV000302441 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299293 SCV000482096 benign Hemophilia A, FVIII Deficiency 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755528 SCV000603511 benign not provided 2017-06-14 criteria provided, single submitter clinical testing
GeneReviews RCV000033892 SCV000057800 benign Hereditary factor VIII deficiency disease 2011-09-22 no assertion criteria provided curation Converted during submission to Benign.

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