ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2127C>T (p.His709=)

gnomAD frequency: 0.00001  dbSNP: rs755898711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459011 SCV000559886 likely benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001696886 SCV000725390 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170164 SCV001332714 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000459011 SCV002554986 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270523 SCV002554988 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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