ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1356C>T (p.Cys452=)

gnomAD frequency: 0.00001  dbSNP: rs137853961
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000775064 SCV000909165 likely benign Familial hypercholesterolemia 2017-07-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996558 SCV004820303 likely benign Hypercholesterolemia, familial, 1 2023-12-13 criteria provided, single submitter clinical testing
SNPedia RCV000058919 SCV000090440 not provided not provided no assertion provided not provided

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