ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1146T>A (p.Thr382=)

gnomAD frequency: 0.00006  dbSNP: rs371168589
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459787 SCV000557450 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2024-01-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729609 SCV001977891 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001729609 SCV001978626 likely benign not provided no assertion criteria provided clinical testing

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