ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) (rs28932177)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146778 SCV000194103 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000146778 SCV000258189 benign not specified 2015-03-25 criteria provided, single submitter clinical testing
Invitae RCV000228344 SCV000290660 benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000146778 SCV000314050 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403985 SCV000456453 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314056 SCV000456454 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716112 SCV000846946 benign History of neurodevelopmental disorder 2016-06-29 criteria provided, single submitter clinical testing

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