ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.429G>A (p.Pro143=)

gnomAD frequency: 0.00001  dbSNP: rs757406877
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002539071 SCV001011751 likely benign Adams-Oliver syndrome 5 2022-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307632 SCV003999766 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-12 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 RCV003489950 SCV004241215 likely benign not specified 2023-12-17 criteria provided, single submitter clinical testing

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