ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.291C>T (p.Asn97=)

gnomAD frequency: 0.00004  dbSNP: rs372845091
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237758 SCV000294582 benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV000861214 SCV001001468 likely benign Familial hypercholesterolemia 2024-02-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000861214 SCV001352311 likely benign Familial hypercholesterolemia 2017-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436072 SCV002745998 likely benign Cardiovascular phenotype 2016-11-16 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 RCV000237758 SCV004820142 likely benign Hypercholesterolemia, familial, 1 2024-01-11 criteria provided, single submitter clinical testing
GENinCode PLC RCV000861214 SCV005619961 likely benign Familial hypercholesterolemia 2025-01-07 criteria provided, single submitter clinical testing This is a synonymous (silent) variant that is not predicted to impact splicing and occurs at a nucleotide which is not highly conserved. This variant has been classified as Likely Benign (BP4, BP7).
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237758 SCV000606064 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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