ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1194C>T (p.Ile398=) (rs13306498)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210233 SCV000266323 likely benign Familial hypercholesterolemia 1 2016-08-31 criteria provided, single submitter research MAF =<0.3%
LDLR-LOVD, British Heart Foundation RCV000210233 SCV000295287 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000858408 SCV000556771 benign Familial hypercholesterolemia 2020-12-06 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000210233 SCV000583803 likely pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Color Health, Inc RCV000210233 SCV000689759 benign Familial hypercholesterolemia 1 2017-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000210233 SCV001286368 benign Familial hypercholesterolemia 1 2018-08-28 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Pars Genome Lab RCV000210233 SCV001736823 likely benign Familial hypercholesterolemia 1 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001723783 SCV001949524 benign not provided 2020-01-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17347910, 32719484)
Natera, Inc. RCV001272182 SCV001453897 benign Autosomal dominant familial hypercholesterolemia 2020-05-30 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001699012 SCV001920104 benign not specified no assertion criteria provided clinical testing

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