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: 5
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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
Invitae 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: 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.
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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