ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1118+7del

dbSNP: rs774132615
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469206 SCV000559386 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499433 SCV000597183 uncertain significance not specified 2016-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809425 SCV002056157 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003902690 SCV004721488 likely benign SMARCA4-related disorder 2023-04-05 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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