ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.891C>T (p.Cys297=)

gnomAD frequency: 0.30055  dbSNP: rs2167494
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242684 SCV000314590 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000299540 SCV000449364 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 RCV000354362 SCV000449365 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.
Invitae RCV001515541 SCV001723632 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001711734 SCV001939937 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000354362 SCV002514759 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244703 SCV002514760 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244704 SCV002514761 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000299540 SCV002514762 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000242684 SCV001740822 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242684 SCV001956626 benign not specified no assertion criteria provided clinical testing

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