ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1669+9T>C

gnomAD frequency: 0.88208  dbSNP: rs3125006
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437412 SCV000524331 benign not specified 2016-09-22 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 RCV001519883 SCV001728843 benign Adams-Oliver syndrome 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519883 SCV002026857 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785613 SCV002026858 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000437412 SCV003928458 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000437412 SCV001742355 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000437412 SCV001808730 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000437412 SCV001917577 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000437412 SCV001952204 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000437412 SCV001968674 benign not specified no assertion criteria provided clinical testing

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