ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9477G>A (p.Lys3159=) (rs13306196)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000292000 SCV000687275 benign Familial hypercholesterolemia 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000610530 SCV000731085 likely benign not specified 2017-10-02 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.
Illumina Clinical Services Laboratory,Illumina RCV000377029 SCV000427001 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000292000 SCV000427002 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000532658 SCV000659307 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000292000 SCV000782897 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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