ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)

gnomAD frequency: 0.00003  dbSNP: rs777111928
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001430871 SCV001633619 likely benign Adams-Oliver syndrome 5 2020-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000475768 SCV001822506 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001430871 SCV002553877 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270546 SCV002553878 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367598 SCV002660958 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-04 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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