ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.*666T>C (rs1433099)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000346475 SCV000987013 likely benign Familial hypercholesterolemia 2017-07-21 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%) and the current estimates of databases (LOVD 3), this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000346475 SCV000410561 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing

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