ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)

gnomAD frequency: 0.00006  dbSNP: rs369730620
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698283 SCV000532152 likely benign not provided 2020-12-10 criteria provided, single submitter clinical testing
Invitae RCV000463751 SCV000559952 likely benign Adams-Oliver syndrome 5 2023-08-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000463751 SCV002554267 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270432 SCV002554268 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348224 SCV002647619 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-03 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.
CeGaT Center for Human Genetics Tuebingen RCV001698283 SCV004162001 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001698283 SCV001956373 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698283 SCV001976284 likely benign not provided no assertion criteria provided clinical testing

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