ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=)

gnomAD frequency: 0.00307  dbSNP: rs61751535
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535931 SCV000659462 benign Adams-Oliver syndrome 5 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000599705 SCV000714268 benign not specified 2017-01-18 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.
Ambry Genetics RCV002315056 SCV000738451 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-03-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genome-Nilou Lab RCV000535931 SCV002554293 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270702 SCV002554295 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000599705 SCV004029551 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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