ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.651T>C (p.Asp217=)

gnomAD frequency: 0.00002  dbSNP: rs201374693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868131 SCV001009429 likely benign Familial hypercholesterolemia 2024-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000868131 SCV001359439 likely benign Familial hypercholesterolemia 2018-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363243 SCV002659232 likely benign Cardiovascular phenotype 2019-12-05 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.
Natera, Inc. RCV000868131 SCV001453892 likely benign Familial hypercholesterolemia 2020-06-18 no assertion criteria provided clinical testing

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