ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=)

gnomAD frequency: 0.00053  dbSNP: rs369346436
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698331 SCV000534750 benign not provided 2018-09-12 criteria provided, single submitter clinical testing
Invitae RCV000460150 SCV000559900 benign Adams-Oliver syndrome 5 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313144 SCV000739376 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-21 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660150 SCV000782144 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000460150 SCV002554984 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270472 SCV002554985 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323543 SCV004029179 benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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