ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1669+13G>A

gnomAD frequency: 0.00319  dbSNP: rs147260092
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440811 SCV000529309 benign not specified 2016-12-06 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660142 SCV000782136 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV002059758 SCV002480329 benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002059758 SCV002555047 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270381 SCV002555048 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440811 SCV004029554 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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