ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5384+13C>T

gnomAD frequency: 0.00291  dbSNP: rs112582298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611219 SCV000714267 benign not specified 2017-01-18 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 RCV002062184 SCV002426654 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062184 SCV002554304 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270725 SCV002554306 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000611219 SCV004029564 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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