ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.663C>T (p.Pro221=)

gnomAD frequency: 0.00685  dbSNP: rs11574872
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230337 SCV000290300 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000602843 SCV000714747 benign not specified 2017-02-27 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000769614 SCV000738358 benign Familial thoracic aortic aneurysm and aortic dissection 2015-05-21 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769614 SCV000901011 benign Familial thoracic aortic aneurysm and aortic dissection 2017-09-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000230337 SCV002555125 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270059 SCV002555126 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000602843 SCV004029558 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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