ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=)

gnomAD frequency: 0.00002  dbSNP: rs373041389
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229768 SCV000286058 likely benign Rhabdoid tumor predisposition syndrome 2 2024-01-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000501862 SCV000597190 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568040 SCV000664002 likely benign Hereditary cancer-predisposing syndrome 2015-10-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Sema4, Sema4 RCV000568040 SCV002532924 likely benign Hereditary cancer-predisposing syndrome 2021-05-21 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478845 SCV002774240 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing

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