ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3183+16A>G

gnomAD frequency: 0.33074  dbSNP: rs11096987
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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 RCV000245455 SCV000314585 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245455 SCV000728764 benign not specified 2017-09-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001515542 SCV001723633 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244693 SCV002514807 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244692 SCV002514809 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244694 SCV002514810 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244691 SCV002514811 benign Asphyxiating thoracic dystrophy 5 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715805 SCV005299022 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000245455 SCV001741635 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245455 SCV001956665 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245455 SCV001972503 benign not specified no assertion criteria provided clinical testing

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