ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly) (rs201354264)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500098 SCV000597942 uncertain significance not specified 2016-09-14 criteria provided, single submitter clinical testing
Invitae RCV000951959 SCV001098419 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001149215 SCV001310154 likely benign Cranioectodermal dysplasia 4 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001149216 SCV001310155 likely benign Asphyxiating thoracic dystrophy 5 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286479 SCV001473056 likely benign none provided 2020-03-17 criteria provided, single submitter clinical testing

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