ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) (rs75831573)

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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 RCV000121733 SCV000229748 benign not specified 2015-01-05 criteria provided, single submitter clinical testing
ITMI RCV000121733 SCV000085931 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000638607 SCV000760144 benign Hajdu-Cheney syndrome 2017-11-19 criteria provided, single submitter clinical testing

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