ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=)

gnomAD frequency: 0.00026  dbSNP: rs202231073
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464765 SCV000559875 benign Adams-Oliver syndrome 5 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001696908 SCV000719224 likely benign not provided 2021-10-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313214 SCV000739402 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-27 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 RCV000660164 SCV000782158 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000464765 SCV002554411 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270520 SCV002554412 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001696908 SCV004162019 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing NOTCH1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001696908 SCV001928182 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001696908 SCV001966164 likely benign not provided no assertion criteria provided clinical testing

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