ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.660C>T (p.Pro220=)

gnomAD frequency: 0.00005  dbSNP: rs143002616
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776270 SCV000911542 likely benign Familial hypercholesterolemia 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV000776270 SCV001007823 likely benign Familial hypercholesterolemia 2023-12-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002376947 SCV002667711 likely benign Cardiovascular phenotype 2019-01-28 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.
CeGaT Center for Human Genetics Tuebingen RCV003419880 SCV004137805 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing LDLR: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000508935 SCV004820192 likely benign Hypercholesterolemia, familial, 1 2023-12-13 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508935 SCV000606182 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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