ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1448-49T>C

gnomAD frequency: 0.34839  dbSNP: rs1799937
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246241 SCV000314310 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000837111 SCV000978961 benign not provided 2018-06-18 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.
Genome-Nilou Lab RCV002244660 SCV002515024 benign Drash syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244659 SCV002515025 benign Frasier syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244661 SCV002515026 benign Meacham syndrome 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244662 SCV002515027 benign Nephrotic syndrome, type 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244658 SCV002515028 benign Wilms tumor 1 2021-12-05 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002244658 SCV004016258 benign Wilms tumor 1 2023-07-07 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000246241 SCV005087555 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 58% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 54. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000837111 SCV005323079 benign not provided criteria provided, single submitter not provided

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