ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=)

gnomAD frequency: 0.00001  dbSNP: rs925293836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000899439 SCV000732473 likely benign not provided 2020-03-06 criteria provided, single submitter clinical testing
Invitae RCV001443527 SCV001646502 likely benign Adams-Oliver syndrome 5 2020-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001443527 SCV002555029 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270867 SCV002555030 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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