ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1002C>T (p.Ile334=)

gnomAD frequency: 0.00003  dbSNP: rs762853526
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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 RCV000775609 SCV000909973 likely benign Familial hypercholesterolemia 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV000775609 SCV001011474 benign Familial hypercholesterolemia 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002395228 SCV002699751 likely benign Cardiovascular phenotype 2019-10-25 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.
All of Us Research Program, National Institutes of Health RCV000508929 SCV004820247 likely benign Hypercholesterolemia, familial, 1 2024-01-08 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508929 SCV000606291 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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