ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.4498-10del (rs200890017)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000660186 SCV000782180 likely benign Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082124 SCV000114070 benign not specified 2013-04-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082124 SCV000248330 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320245 SCV000456509 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379650 SCV000456510 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082124 SCV000314067 benign not specified criteria provided, single submitter clinical testing

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