ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr)

gnomAD frequency: 0.00001  dbSNP: rs761156723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770360 SCV000901801 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855726 SCV002217823 benign Adams-Oliver syndrome 5 2023-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001855726 SCV002555184 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271029 SCV002555185 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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