ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2604C>T (p.Val868=)

gnomAD frequency: 0.00103  dbSNP: rs115235667
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225801 SCV000290253 benign Adams-Oliver syndrome 5 2024-01-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000591259 SCV000709223 likely benign not specified 2017-06-12 criteria provided, single submitter clinical testing
GeneDx RCV001705281 SCV000715449 likely benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313948 SCV000739380 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-02-19 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.
Genome-Nilou Lab RCV000225801 SCV002554925 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270038 SCV002554926 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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