ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu) (rs375025242)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000121697 SCV000085895 not provided not specified 2013-09-19 no assertion provided reference population
Blueprint Genetics RCV000143942 SCV000188820 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2014-01-28 no assertion criteria provided clinical testing

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