ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.404-5T>C

dbSNP: rs1229789449
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609041 SCV000717498 likely benign not specified 2018-03-01 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 RCV001496944 SCV001701658 likely benign Adams-Oliver syndrome 5 2023-12-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001496944 SCV002555149 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270752 SCV002555150 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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