ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3705T>C (p.Asn1235=) (rs28932181)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715279 SCV000846107 benign History of neurodevelopmental disorder 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082122 SCV000114068 benign not specified 2014-06-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082122 SCV000194143 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342876 SCV000456495 benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405027 SCV000456496 benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082122 SCV000314062 benign not specified criteria provided, single submitter clinical testing

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