ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.564C>T (p.Tyr188=) (rs121908034)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858875 SCV000627043 likely benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000211646 SCV000689779 likely benign Familial hypercholesterolemia 1 2017-09-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590562 SCV000697240 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000211646 SCV001282941 uncertain significance Familial hypercholesterolemia 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211646 SCV000268571 likely benign Familial hypercholesterolemia 1 2015-09-24 no assertion criteria provided clinical testing

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