ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1977C>A (p.Thr659=) (rs72658866)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238020 SCV000295788 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238020 SCV000322994 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/95 non-FH individuals
Fundacion Hipercolesterolemia Familiar RCV000238020 SCV000607660 likely benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
GeneDx RCV000602092 SCV000721078 likely benign not specified 2017-07-11 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.
Invitae RCV000776112 SCV000752446 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000776112 SCV000910985 likely benign Familial hypercholesterolemia 2017-06-07 criteria provided, single submitter clinical testing

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