ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) (rs28932179)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000146803 SCV000194129 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146803 SCV000203155 benign not specified 2014-04-07 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000146803 SCV000258190 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146803 SCV000314058 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000463452 SCV000558229 benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716118 SCV000846953 benign History of neurodevelopmental disorder 2016-06-29 criteria provided, single submitter clinical testing

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