ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3901+3G>A

gnomAD frequency: 0.00043  dbSNP: rs373113999
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001719910 SCV000724100 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660160 SCV000782154 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000864876 SCV001005747 benign Adams-Oliver syndrome 5 2024-01-19 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000143941 SCV001333785 benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000864876 SCV002554453 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269926 SCV002554454 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000143940 SCV000188818 likely benign Marfan syndrome 2014-12-31 no assertion criteria provided clinical testing
Blueprint Genetics RCV000143941 SCV000188819 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-12-31 no assertion criteria provided clinical testing

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