ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1358+7G>A

gnomAD frequency: 0.00004  dbSNP: rs369709333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417263 SCV000503341 uncertain significance Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
Labcorp Genetics (formerly Invitae), Labcorp RCV000862650 SCV001003180 likely benign Familial hypercholesterolemia 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003372702 SCV004098400 likely benign Cardiovascular phenotype 2023-07-26 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.

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