ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) (rs6692009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176590 SCV000228267 benign not specified 2015-03-11 criteria provided, single submitter clinical testing
Invitae RCV000537922 SCV000636903 benign Hajdu-Cheney syndrome 2017-08-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000176590 SCV000314295 benign not specified criteria provided, single submitter clinical testing

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