ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3326-11A>C

gnomAD frequency: 0.00039  dbSNP: rs377648586
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697434 SCV000715677 likely benign not provided 2021-01-05 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680591 SCV000808016 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV002062919 SCV002421335 benign Adams-Oliver syndrome 5 2024-01-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062919 SCV002554511 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270737 SCV002554512 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323630 SCV004029536 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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