ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.90C>T (p.Asn30=) (rs72658855)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237404 SCV000322876 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Color RCV000237404 SCV000689782 benign Familial hypercholesterolemia 2017-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000440331 SCV000528018 benign not specified 2017-01-09 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 RCV000237404 SCV000410525 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000237404 SCV000556787 benign Familial hypercholesterolemia 2018-01-26 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000237404 SCV000294458 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237404 SCV000606011 benign Familial hypercholesterolemia no assertion criteria provided research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759077 SCV000888169 benign not provided 2018-05-17 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000237404 SCV000782954 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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