ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)

gnomAD frequency: 0.00001  dbSNP: rs766577980
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680595 SCV000808023 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV001445219 SCV001648243 likely benign Adams-Oliver syndrome 5 2020-08-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001445219 SCV002555002 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270962 SCV002555003 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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