ClinVar Miner

Submissions for variant NM_000041.4(APOE):c.388T>C (p.Cys130Arg) (rs429358)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000292119 SCV000333415 other not provided 2017-11-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826089 SCV000967586 risk factor Primary degenerative dementia of the Alzheimer type, presenile onset 2019-01-16 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000292119 SCV000987489 risk factor not provided criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000991302 SCV001142704 likely pathogenic Alzheimer's disease 2019-06-27 criteria provided, single submitter clinical testing
OMIM RCV000019448 SCV000039738 pathogenic Alzheimer disease 2 2018-01-10 no assertion criteria provided literature only
Pharmacogenomics Lab,Chungbuk National University RCV000845581 SCV000889946 drug response Warfarin response 2010-08-31 no assertion criteria provided research

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