ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) (rs78247455)

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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 RCV000715526 SCV000846355 benign History of neurodevelopmental disorder 2016-06-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082144 SCV000114090 benign not specified 2013-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082144 SCV000194286 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403320 SCV000456539 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302056 SCV000456540 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000469381 SCV000558224 benign Beckwith-Wiedemann syndrome 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082144 SCV000314082 benign not specified criteria provided, single submitter clinical testing

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