ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3759C>T (p.His1253=)

gnomAD frequency: 0.00003  dbSNP: rs369795942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877337 SCV001020061 likely benign Rhabdoid tumor predisposition syndrome 2 2023-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021063 SCV001182631 likely benign Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478566 SCV004220430 likely benign not provided 2022-12-14 criteria provided, single submitter clinical testing

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