ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3183+9G>A

gnomAD frequency: 0.00248  dbSNP: rs138318063
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000348364 SCV000449416 likely 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 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 RCV000395820 SCV000449417 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000877838 SCV001020634 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000348364 SCV002514803 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244831 SCV002514804 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244832 SCV002514805 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000395820 SCV002514806 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278578 SCV002567165 likely benign Connective tissue disorder 2020-03-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114505 SCV003799957 likely benign not provided 2022-04-05 criteria provided, single submitter clinical testing

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