ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.480C>T (p.Asp160=) (rs79427433)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242375 SCV000314069 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000242375 SCV000332289 benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405560 SCV000456433 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308754 SCV000456434 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000555461 SCV000623207 benign not provided 2019-02-08 criteria provided, single submitter clinical testing

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