ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=)

gnomAD frequency: 0.00008  dbSNP: rs201499253
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527828 SCV000659484 benign Adams-Oliver syndrome 5 2023-05-05 criteria provided, single submitter clinical testing
GeneDx RCV001591307 SCV001816434 likely benign not provided 2021-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000527828 SCV002553833 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270708 SCV002553834 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377195 SCV002667292 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-09 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.

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