ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6259-8A>T (rs370529039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000146915 SCV000782190 uncertain significance Sotos syndrome 1 2016-11-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000146915 SCV000194244 uncertain significance Sotos syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000628575 SCV000749477 likely benign Beckwith-Wiedemann syndrome 2017-08-17 criteria provided, single submitter clinical testing

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