ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) (rs9105)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567612 SCV000663859 benign Hereditary cancer-predisposing syndrome 2015-05-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000114307 SCV000518010 benign not specified 2015-12-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000114307 SCV000147866 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Illumina Clinical Services Laboratory,Illumina RCV000330274 SCV000410512 benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474634 SCV000559321 benign Rhabdoid tumor predisposition syndrome 2 2017-08-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000114307 SCV000306745 benign not specified criteria provided, single submitter clinical testing

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