ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3901+10G>A

gnomAD frequency: 0.00003  dbSNP: rs561404862
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547192 SCV000659434 likely benign Adams-Oliver syndrome 5 2023-09-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680589 SCV000808014 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000547192 SCV002554451 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270695 SCV002554452 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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