ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=)

gnomAD frequency: 0.00314  dbSNP: rs201985795
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175337 SCV000226808 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
Invitae RCV000233036 SCV000290258 benign Adams-Oliver syndrome 5 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV000175337 SCV000529311 benign not specified 2016-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002314605 SCV000739373 benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV000233036 SCV002554905 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269935 SCV002554906 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000175337 SCV004029544 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000175337 SCV001807497 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000175337 SCV001974393 benign not specified no assertion criteria provided clinical testing

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