ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2373C>T (p.Ser791=)

gnomAD frequency: 0.00001  dbSNP: rs751216643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179827 SCV001344614 likely benign Familial hypercholesterolemia 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV001179827 SCV001599867 likely benign Familial hypercholesterolemia 2023-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445424 SCV002735048 likely benign Cardiovascular phenotype 2021-08-02 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.
Fulgent Genetics, Fulgent Genetics RCV002491521 SCV002799174 likely benign Hypercholesterolemia, familial, 1 2021-09-20 criteria provided, single submitter clinical testing

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