ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.1515T>C (p.Asn505=) (rs114747882)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719018 SCV000849882 benign History of neurodevelopmental disorder 2017-01-16 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 RCV000082101 SCV000114047 benign not specified 2013-04-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082101 SCV000194089 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000464623 SCV000558215 benign Beckwith-Wiedemann syndrome 2017-11-03 criteria provided, single submitter clinical testing

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