ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2390-16G>A (rs183496025)

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Total submissions: 5
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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 RCV000237498 SCV000599413 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Color RCV000776248 SCV000911500 benign Familial hypercholesterolemias 2017-05-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000237498 SCV000733833 likely benign Familial hypercholesterolemia no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590119 SCV000697228 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000237498 SCV000295982 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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