ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1302G>A (p.Thr434=)

gnomAD frequency: 0.00001  dbSNP: rs534782075
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872640 SCV001014489 benign Familial hypercholesterolemia 2025-01-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000872640 SCV001352312 likely benign Familial hypercholesterolemia 2017-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381988 SCV002689860 likely benign Cardiovascular phenotype 2020-02-11 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003230602 SCV003929050 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003082 SCV004820294 likely benign Hypercholesterolemia, familial, 1 2024-02-05 criteria provided, single submitter clinical testing
GENinCode PLC RCV000872640 SCV005441719 likely benign Familial hypercholesterolemia 2024-03-08 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 conserved. Therefore this variant has been classified as Likely Benign (BP4, BP7).

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