ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)

gnomAD frequency: 0.58641  dbSNP: rs2229974
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000313125 SCV000339458 benign not specified 2016-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000313125 SCV000519072 benign not specified 2016-09-22 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 RCV002314018 SCV000738279 benign Familial thoracic aortic aneurysm and aortic dissection 2014-12-30 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001519881 SCV001728841 benign Adams-Oliver syndrome 5 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001519881 SCV002026837 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000607860 SCV002026838 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000313125 SCV003928454 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000607860 SCV000734675 benign Aortic valve disease 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000313125 SCV001808413 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000313125 SCV001921195 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000313125 SCV001955695 benign not specified no assertion criteria provided clinical testing

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