ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2390-16G>A

gnomAD frequency: 0.00221  dbSNP: rs183496025
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237498 SCV000295982 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237498 SCV000599413 likely benign Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590119 SCV000697228 benign not provided 2016-01-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776248 SCV000911500 benign Familial hypercholesterolemia 2017-05-30 criteria provided, single submitter clinical testing
Invitae RCV000776248 SCV002333687 benign Familial hypercholesterolemia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450748 SCV002737104 likely benign Cardiovascular phenotype 2019-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GENinCode PLC RCV000776248 SCV005073998 benign Familial hypercholesterolemia 2022-10-11 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000237498 SCV000733833 likely benign Hypercholesterolemia, familial, 1 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699174 SCV001919199 benign not specified no assertion criteria provided clinical testing

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