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 RCV001722277 SCV000721078 likely benign not provided 2018-07-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26020417, 30333156)
Invitae RCV000776112 SCV000752446 benign Familial hypercholesterolemia 2020-12-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776112 SCV000910985 likely benign Familial hypercholesterolemia 2017-06-07 criteria provided, single submitter clinical testing

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