ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) (rs559917218)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254053 SCV000320646 uncertain significance Inborn genetic diseases 2015-08-24 criteria provided, single submitter clinical testing
Invitae RCV000470027 SCV000559910 likely benign Adams-Oliver syndrome 5 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV001697110 SCV000727443 likely benign not provided 2020-06-16 criteria provided, single submitter clinical testing
New York Genome Center RCV001263406 SCV001441450 uncertain significance Bicuspid aortic valve 2019-05-31 criteria provided, single submitter clinical testing
ITMI RCV000121668 SCV000085866 not provided not specified 2013-09-19 no assertion provided reference population

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