ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln)

gnomAD frequency: 0.00883  dbSNP: rs138529452
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525665 SCV000656613 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811070 SCV001157127 benign not provided 2019-12-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001149092 SCV001310025 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 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 RCV001149093 SCV001310026 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome-Nilou Lab RCV001149093 SCV002514790 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245014 SCV002514791 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002245015 SCV002514792 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001149092 SCV002514793 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing

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