ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.969C>T (p.Gly323=)

gnomAD frequency: 0.00001  dbSNP: rs199622547
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237772 SCV000295117 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter research
Color Diagnostics, LLC DBA Color Health RCV001186223 SCV001352590 likely benign Familial hypercholesterolemia 2017-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374403 SCV002692565 likely benign Cardiovascular phenotype 2022-10-07 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001186223 SCV004373263 likely benign Familial hypercholesterolemia 2024-11-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000237772 SCV004820241 likely benign Hypercholesterolemia, familial, 1 2023-10-23 criteria provided, single submitter clinical testing
GENinCode PLC RCV001186223 SCV005441712 likely benign Familial hypercholesterolemia 2023-02-28 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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