ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)

dbSNP: rs35980907
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315070 SCV000739378 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-04-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000862578 SCV001003099 likely benign Adams-Oliver syndrome 5 2023-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000862578 SCV002554324 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270873 SCV002554325 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV002315070 SCV004239534 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-02 criteria provided, single submitter clinical testing

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