ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)

dbSNP: rs375576856
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770362 SCV000901803 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-06-30 criteria provided, single submitter clinical testing
Invitae RCV001416979 SCV001619171 likely benign Adams-Oliver syndrome 5 2023-10-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001416979 SCV002553751 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271030 SCV002553752 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000770362 SCV002672264 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-11 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 RCV003489857 SCV004240862 likely benign not specified 2023-12-11 criteria provided, single submitter clinical testing

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