ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) (rs35656321)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121713 SCV000344318 benign not specified 2016-08-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514670 SCV000610879 benign not provided 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV001089399 SCV001021052 benign Hajdu-Cheney syndrome 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121713 SCV000085911 not provided not specified 2013-09-19 no assertion provided reference population

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