ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)

gnomAD frequency: 0.00001  dbSNP: rs775336930
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422810 SCV000533913 likely benign not specified 2016-11-21 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 RCV002313135 SCV000739461 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-01-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000868330 SCV001009645 likely benign Adams-Oliver syndrome 5 2023-01-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000868330 SCV002553797 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270455 SCV002553798 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422810 SCV005077318 likely benign not specified 2024-04-08 criteria provided, single submitter clinical testing

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