ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.324G>A (p.Thr108=)

dbSNP: rs146517429
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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 RCV001185504 SCV001351729 likely benign Familial hypercholesterolemia 2018-11-19 criteria provided, single submitter clinical testing
Invitae RCV001185504 SCV002435936 likely benign Familial hypercholesterolemia 2022-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002323875 SCV002609862 likely benign Cardiovascular phenotype 2019-10-12 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.
All of Us Research Program, National Institutes of Health RCV000508729 SCV004820148 likely benign Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000508729 SCV000606083 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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