ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.2388C>T (p.Leu796=) (rs28997580)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575883 SCV000663869 benign Hereditary cancer-predisposing syndrome 2016-11-18 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 RCV000423450 SCV000518035 benign not specified 2016-02-12 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.
Illumina Clinical Services Laboratory,Illumina RCV000395804 SCV000410485 benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000206382 SCV000261746 benign Rhabdoid tumor predisposition syndrome 2 2017-08-10 criteria provided, single submitter clinical testing

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