ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)

gnomAD frequency: 0.00068  dbSNP: rs61733293
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704501 SCV000532150 likely benign not provided 2021-06-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21457232)
Invitae RCV000476306 SCV000559908 likely benign Adams-Oliver syndrome 5 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313120 SCV000739394 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-10-19 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660141 SCV000782135 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000476306 SCV002555073 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270431 SCV002555074 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 RCV002313120 SCV003837922 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-05-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001704501 SCV004162056 benign not provided 2022-09-01 criteria provided, single submitter clinical testing NOTCH1: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479116 SCV004223389 benign not specified 2023-11-06 criteria provided, single submitter clinical testing

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