ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)

gnomAD frequency: 0.00004  dbSNP: rs369470875
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697453 SCV000717468 likely benign not provided 2019-07-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002063076 SCV002365795 likely benign Adams-Oliver syndrome 5 2024-11-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063076 SCV002553768 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270751 SCV002553770 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498910 SCV002813019 likely benign Aortic valve disease 1; Adams-Oliver syndrome 5 2022-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024919 SCV005027290 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005240317 SCV005883594 likely benign not specified 2024-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530764 SCV004713324 likely benign NOTCH1-related disorder 2022-03-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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