ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2481C>T (p.Val827=)

gnomAD frequency: 0.00002  dbSNP: rs767524995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180535 SCV001345478 likely benign Familial hypercholesterolemia 2019-03-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429809 SCV002740812 likely benign Cardiovascular phenotype 2020-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001180535 SCV004246265 likely benign Familial hypercholesterolemia 2023-12-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701298 SCV001924528 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001701298 SCV001963256 likely benign not provided no assertion criteria provided clinical testing

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