ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met)

gnomAD frequency: 0.00001  dbSNP: rs373770404
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700880 SCV000829656 benign Adams-Oliver syndrome 5 2024-01-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769608 SCV000901005 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-09-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000700880 SCV002553961 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270970 SCV002553962 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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