ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)

gnomAD frequency: 0.00004  dbSNP: rs377342874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704540 SCV000534020 likely benign not provided 2018-04-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000951809 SCV001098247 likely benign Adams-Oliver syndrome 5 2023-11-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000951809 SCV002555080 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270457 SCV002555081 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446746 SCV002682869 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-08-09 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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