ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) (rs146014987)

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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 RCV000725834 SCV000339761 uncertain significance not provided 2016-02-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764962 SCV000896137 uncertain significance Alagille syndrome 2; Hajdu-Cheney syndrome 2018-10-31 criteria provided, single submitter clinical testing
ITMI RCV000121715 SCV000085913 not provided not specified 2013-09-19 no assertion provided reference population

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