ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.-9A>G

gnomAD frequency: 0.05032  dbSNP: rs60800612
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254521 SCV000314578 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296000 SCV000449352 benign Asphyxiating thoracic dystrophy 5 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000350886 SCV000449353 benign Cranioectodermal dysplasia 4 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001668589 SCV001883134 benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000350886 SCV002514746 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244679 SCV002514747 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244680 SCV002514748 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000296000 SCV002514749 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing

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