ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.2438+10C>T

gnomAD frequency: 0.00006  dbSNP: rs370782232
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195007 SCV000248956 uncertain significance not specified 2014-12-17 criteria provided, single submitter clinical testing
Invitae RCV000229640 SCV000286021 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001808539 SCV002056177 likely benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256103 SCV002532839 likely benign Hereditary cancer-predisposing syndrome 2021-03-28 criteria provided, single submitter curation

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