ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)

gnomAD frequency: 0.00051  dbSNP: rs369167693
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556881 SCV000659475 likely benign Adams-Oliver syndrome 5 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV001591306 SCV001822684 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000556881 SCV002553897 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270705 SCV002553898 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358628 SCV002661075 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-03 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330797 SCV004038206 benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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