ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=)

gnomAD frequency: 0.00207  dbSNP: rs142375989
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311209 SCV000320538 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-26 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 RCV000456873 SCV000559877 benign Adams-Oliver syndrome 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000606907 SCV000714623 benign not specified 2017-04-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV000456873 SCV002554389 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270190 SCV002554390 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000606907 SCV004029509 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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