ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1288G>A (p.Ala430Thr) (rs753909969)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000383804 SCV000345771 pathogenic not provided 2016-09-01 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851679 SCV000899463 pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Mayo Clinic Laboratories, Mayo Clinic RCV000383804 SCV001715852 likely pathogenic not provided 2021-03-26 criteria provided, single submitter clinical testing PP3, PM2, PM1, PS4_moderate

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