ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1988-5C>G (rs375877599)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237116 SCV000295798 uncertain significance Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Color RCV000776246 SCV000911497 likely benign Familial hypercholesterolemia 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV000776246 SCV001010946 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000237116 SCV001286048 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.

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