ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)

gnomAD frequency: 0.00141  dbSNP: rs139671268
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000118828 SCV000153475 uncertain significance not provided 2014-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000488918 SCV000577094 likely benign not specified 2018-03-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000118828 SCV001033121 likely benign not provided 2021-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001167399 SCV001329895 likely benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000118828 SCV001334932 uncertain significance not provided 2020-02-01 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252624 SCV001428385 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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