ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2363+7C>T

gnomAD frequency: 0.00066  dbSNP: rs190180293
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946201 SCV001092309 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-11-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818932 SCV002064871 likely benign not specified 2020-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488026 SCV002796550 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2022-04-20 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573074 SCV001798408 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573074 SCV001971675 likely benign not provided no assertion criteria provided clinical testing

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