ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) (rs138504021)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234523 SCV000290244 likely benign Adams-Oliver syndrome 5 2018-01-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244041 SCV000319430 likely benign Cardiovascular phenotype 2017-12-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
GeneDx RCV000121660 SCV000531887 likely benign not specified 2017-12-19 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.
Center for Human Genetics, Inc RCV000660145 SCV000782139 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769600 SCV000900997 likely benign Thoracic aortic aneurysm and aortic dissection 2017-09-14 criteria provided, single submitter clinical testing
ITMI RCV000121660 SCV000085858 not provided not specified 2013-09-19 no assertion provided reference population

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