ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) (rs146601031)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146929 SCV000114077 likely benign not specified 2015-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000146929 SCV000194258 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000558220 SCV000623216 likely benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092136 SCV001248512 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing

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