ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.258C>T (p.Asp86=)

gnomAD frequency: 0.00153  dbSNP: rs115992445
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083887 SCV000559402 benign Rhabdoid tumor predisposition syndrome 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570129 SCV000663948 likely benign Hereditary cancer-predisposing syndrome 2015-06-25 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.
CeGaT Center for Human Genetics Tuebingen RCV000459806 SCV001151639 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SMARCA4: BP4, BP7, BS2
GeneDx RCV000459806 SCV001822362 likely benign not provided 2021-05-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001809428 SCV002057851 benign Intellectual disability, autosomal dominant 16 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570129 SCV002532851 benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002475909 SCV002773984 benign not specified 2021-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489120 SCV002797918 likely benign Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16 2021-09-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000459806 SCV004562155 benign not provided 2022-12-28 criteria provided, single submitter clinical testing

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