ClinVar Miner

Submissions for variant NM_024426.6(WT1):c.764T>A (p.Met255Lys)

dbSNP: rs377573993
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000892804 SCV001036705 likely benign Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 2023-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492615 SCV002796015 likely benign Aniridia 1; Drash syndrome; Frasier syndrome; Meacham syndrome; Mesothelioma, malignant; Nephrotic syndrome, type 4; Wilms tumor 1; 11p partial monosomy syndrome 2021-10-04 criteria provided, single submitter clinical testing
GeneDx RCV003162657 SCV003915010 uncertain significance not provided 2022-10-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with congenital nephrotic syndrome (Joshi et al., 2021); This variant is associated with the following publications: (PMID: 33980730, 8486616)
PreventionGenetics, part of Exact Sciences RCV003975226 SCV004789381 likely benign WT1-related condition 2022-03-07 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).
Blueprint Genetics RCV000157583 SCV000207329 uncertain significance Proteinuria 2014-09-15 no assertion criteria provided clinical testing

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