ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1944C>T (p.Ser648=)

gnomAD frequency: 0.00004  dbSNP: rs774330316
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448994 SCV001652098 likely benign Familial hypercholesterolemia 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414077 SCV002722790 likely benign Cardiovascular phenotype 2022-08-30 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.
Color Diagnostics, LLC DBA Color Health RCV001448994 SCV004359052 likely benign Familial hypercholesterolemia 2022-03-21 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004007047 SCV004818471 likely benign Hypercholesterolemia, familial, 1 2023-02-15 criteria provided, single submitter clinical testing
GENinCode PLC RCV001448994 SCV005441734 likely benign Familial hypercholesterolemia 2024-05-17 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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