ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6829T>C (p.Leu2277=) (rs28580074)

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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 RCV000715244 SCV000846072 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082138 SCV000114084 benign not specified 2014-07-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082138 SCV000194278 likely benign not specified no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379229 SCV000456527 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268880 SCV000456528 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082138 SCV000314077 benign not specified criteria provided, single submitter clinical testing

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