ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)

gnomAD frequency: 0.00001  dbSNP: rs770313470
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002080546 SCV002371339 likely benign Adams-Oliver syndrome 5 2023-05-07 criteria provided, single submitter clinical testing
GeneDx RCV002080547 SCV002496340 likely benign not provided 2021-08-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002080546 SCV002554980 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271317 SCV002554981 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485762 SCV004239526 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-10-11 criteria provided, single submitter clinical testing

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