ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.*52G>A (rs14158)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256250 SCV000323020 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Illumina Clinical Services Laboratory,Illumina RCV000256250 SCV000410546 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000256250 SCV000987011 benign Familial hypercholesterolemia 1 2018-06-11 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 benign.

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