ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) (rs35848863)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715515 SCV000846344 benign History of neurodevelopmental disorder 2016-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082135 SCV000114081 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082135 SCV000194275 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299910 SCV000456523 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359399 SCV000456524 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471020 SCV000558227 benign Beckwith-Wiedemann syndrome 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082135 SCV000314075 benign not specified criteria provided, single submitter clinical testing

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