ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.-8G>A (rs199639292)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000192971 SCV000513981 benign not specified 2016-04-05 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 RCV000192971 SCV000248312 uncertain significance not specified 2013-08-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374350 SCV000456427 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282375 SCV000456428 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000192971 SCV000314041 likely benign not specified criteria provided, single submitter clinical testing

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