ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) (rs200241618)

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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 RCV000335555 SCV000456535 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392234 SCV000456536 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536535 SCV000623217 benign Beckwith-Wiedemann syndrome 2017-01-27 criteria provided, single submitter clinical testing

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