ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) (rs35339834)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723635 SCV000225840 uncertain significance not provided 2015-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000194482 SCV000249381 uncertain significance not specified 2015-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270534 SCV000479356 uncertain significance Congenital cerebellar hypoplasia 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764831 SCV000895987 uncertain significance Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000764831 SCV001331412 uncertain significance Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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