ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.858C>T (p.Ser286=) (rs140241383)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Health, Inc RCV000771222 SCV000903316 likely benign Familial hypercholesterolemia 2017-07-10 criteria provided, single submitter clinical testing
Invitae RCV000771222 SCV001003868 benign Familial hypercholesterolemia 2020-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000508853 SCV001285930 uncertain significance Familial hypercholesterolemia 1 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001584226 SCV001821337 likely benign not specified 2021-08-21 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508853 SCV000606250 benign Familial hypercholesterolemia 1 no assertion criteria provided research
Clinical Genetics,Academic Medical Center RCV001706654 SCV001925624 likely benign not provided no assertion criteria provided clinical testing

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