ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8353A>C (p.Asn2785His) (rs2163204)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203055 SCV000257687 benign Familial hypercholesterolemia 2015-05-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265873 SCV000427016 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203055 SCV000427017 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000203055 SCV000484832 benign Familial hypercholesterolemia 2019-08-22 criteria provided, single submitter clinical testing
Invitae RCV000470095 SCV000554813 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-15 criteria provided, single submitter clinical testing
Color RCV000203055 SCV000687269 benign Familial hypercholesterolemia 2017-06-27 criteria provided, single submitter clinical testing
Color RCV000776025 SCV000910596 benign Familial hypercholesterolemias 2018-03-07 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845554 SCV000987676 uncertain significance not provided criteria provided, single submitter clinical testing

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