ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) (rs35586704)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000121737 SCV000297311 likely benign not specified 2015-12-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121737 SCV000339428 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Invitae RCV000540032 SCV000636912 likely benign Hajdu-Cheney syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121737 SCV000085935 not provided not specified 2013-09-19 no assertion provided reference population
Clinical Genetics, Erasmus University Medical Center RCV000508681 SCV000328906 uncertain significance Hirschsprung disease 1 2016-11-18 no assertion criteria provided clinical testing

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