ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)

gnomAD frequency: 0.00001  dbSNP: rs767822693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208147 SCV000264135 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2015-09-22 criteria provided, single submitter clinical testing
Invitae RCV000804474 SCV000944385 likely benign Adams-Oliver syndrome 5 2023-02-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000804474 SCV002553302 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270024 SCV002553304 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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