ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) (rs574725520)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000454787 SCV000538322 uncertain significance 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: 1 paper, no segs, ExAC: 0.2% (28/16492) South Asian chromosomes
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726680 SCV000702087 uncertain significance not provided 2016-09-28 criteria provided, single submitter clinical testing
Invitae RCV000655129 SCV000777054 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-11-26 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000660710 SCV000782899 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000775470 SCV000909833 likely benign Familial hypercholesterolemias 2018-10-18 criteria provided, single submitter clinical testing

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