ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2064C>T (p.Asn688=)

gnomAD frequency: 0.00002  dbSNP: rs142279332
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000776529 SCV000752433 likely benign Familial hypercholesterolemia 2023-11-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776529 SCV000912125 likely benign Familial hypercholesterolemia 2018-06-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002420681 SCV002725149 likely benign Cardiovascular phenotype 2019-06-12 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478353 SCV004219971 likely benign not provided 2023-04-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003805 SCV004818492 likely benign Hypercholesterolemia, familial, 1 2023-12-13 criteria provided, single submitter clinical testing

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