ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) (rs201327209)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385264 SCV000456467 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290930 SCV000456468 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226162 SCV000290662 benign Beckwith-Wiedemann syndrome 2015-12-22 criteria provided, single submitter clinical testing

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