ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.1161A>G (p.Ala387=)

gnomAD frequency: 0.00051  dbSNP: rs141834493
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531070 SCV000657601 benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497193 SCV002812499 likely benign Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2021-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925731 SCV004745751 likely benign WT1-related condition 2019-05-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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