ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro)

dbSNP: rs879254779
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237686 SCV000295200 uncertain significance Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV005404446 SCV006065270 likely pathogenic Dyslipidemia 2022-03-15 criteria provided, single submitter clinical testing

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