ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)

gnomAD frequency: 0.00001  dbSNP: rs754724517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315115 SCV000739478 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-10-13 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 RCV002060681 SCV002386013 likely benign Adams-Oliver syndrome 5 2022-08-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002060681 SCV002554886 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270908 SCV002554888 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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