ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1038G>A (p.Leu346=)

gnomAD frequency: 0.00003  dbSNP: rs769228441
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000930961 SCV001151655 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing LDLR: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV001189126 SCV001356337 likely benign Familial hypercholesterolemia 2019-09-03 criteria provided, single submitter clinical testing
Invitae RCV001189126 SCV001625070 likely benign Familial hypercholesterolemia 2022-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390944 SCV002697463 likely benign Cardiovascular phenotype 2020-12-10 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.
PreventionGenetics, part of Exact Sciences RCV003970570 SCV004787257 likely benign LDLR-related condition 2019-04-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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