ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1555+16G>A

gnomAD frequency: 0.00010  dbSNP: rs368798926
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608648 SCV000721972 likely benign not specified 2017-09-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002064003 SCV002488769 likely benign Adams-Oliver syndrome 5 2023-10-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002064003 SCV002555062 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270784 SCV002555063 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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