ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=)

gnomAD frequency: 0.00001  dbSNP: rs535478432
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001511526 SCV001718790 benign Adams-Oliver syndrome 5 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350403 SCV002653150 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-03-17 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.
PreventionGenetics, part of Exact Sciences RCV003900243 SCV004713300 benign NOTCH1-related condition 2022-05-23 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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