ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2548-12A>G

gnomAD frequency: 0.00001  dbSNP: rs771336748
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238357 SCV000296035 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000238357 SCV000503498 uncertain significance Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1, family member=1
Invitae RCV001409431 SCV001611451 likely benign Familial hypercholesterolemia 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001409431 SCV001736483 likely benign Familial hypercholesterolemia 2023-08-10 criteria provided, single submitter clinical testing
GeneDx RCV002225536 SCV002504163 likely benign not provided 2019-04-09 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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