ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) (rs13306505)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000415650 SCV000782944 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute RCV000785982 SCV000863954 benign Familial hypercholesterolemia 2018-11-20 criteria provided, single submitter clinical testing LDLR A860V variant is interpreted as a benign variant based on pedigree-based genetic analysis.
Color RCV000785982 SCV001348608 likely benign Familial hypercholesterolemia 2019-05-07 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415650 SCV000493752 uncertain significance Familial hypercholesterolemia 1 2016-03-30 no assertion criteria provided clinical testing

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