ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9105T>C (p.Asn3035=) (rs147510760)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229789 SCV000284776 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000424006 SCV000533933 likely benign not specified 2017-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Robarts Research Institute,Western University RCV000660706 SCV000782893 benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771098 SCV000902730 likely benign Familial hypercholesterolemia 2017-11-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000229789 SCV001133428 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000229789 SCV001152128 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing

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