ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)

gnomAD frequency: 0.00275  dbSNP: rs187546086
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000723861 SCV000203804 uncertain significance not provided 2014-04-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000278329 SCV000449412 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.
Illumina Laboratory Services,Illumina RCV000317115 SCV000449413 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.
Genetic Services Laboratory,University of Chicago RCV000154140 SCV000597943 likely benign not specified 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV001083264 SCV000775129 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2021-12-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000723861 SCV001158798 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277304 SCV002567162 uncertain significance Connective tissue disorder 2021-03-01 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000723861 SCV001799170 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154140 SCV001925398 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723861 SCV001967561 likely benign not provided no assertion criteria provided clinical testing

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