ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) (rs74882029)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121711 SCV000345509 benign not specified 2016-09-16 criteria provided, single submitter clinical testing
ITMI RCV000121711 SCV000085909 not provided not specified 2013-09-19 no assertion provided reference population

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