ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser)

gnomAD frequency: 0.00003  dbSNP: rs757066417
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Total submissions: 5
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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 RCV000769601 SCV000900998 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000794046 SCV000933429 benign Adams-Oliver syndrome 5 2022-10-13 criteria provided, single submitter clinical testing
GeneDx RCV001759450 SCV001988561 uncertain significance not provided 2021-04-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000794046 SCV002553935 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271024 SCV002553936 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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