ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)

gnomAD frequency: 0.00004  dbSNP: rs534623042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315085 SCV000739416 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-04-01 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 RCV000655288 SCV000777218 likely benign Adams-Oliver syndrome 5 2022-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001568613 SCV001792518 likely benign not provided 2020-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000655288 SCV002553753 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270882 SCV002553754 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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