ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.147C>T (p.Ser49=)

gnomAD frequency: 0.00006  dbSNP: rs138078086
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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 RCV001186036 SCV001352366 likely benign Familial hypercholesterolemia 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001186036 SCV001710313 likely benign Familial hypercholesterolemia 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393423 SCV002700388 likely benign Cardiovascular phenotype 2019-06-29 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323808 SCV004028783 likely benign not specified 2023-07-18 criteria provided, single submitter clinical testing

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