ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) (rs34165241)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082136 SCV000114082 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082136 SCV000194277 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082136 SCV000314076 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264900 SCV000456525 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324720 SCV000456526 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476340 SCV000558222 benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715513 SCV000846342 benign History of neurodevelopmental disorder 2016-06-13 criteria provided, single submitter clinical testing

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