ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) (rs76371972)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000252391 SCV000319658 benign Cardiovascular phenotype 2015-05-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770625 SCV000902076 benign Thoracic aortic aneurysm and aortic dissection 2017-09-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424103 SCV000511600 benign not provided 2016-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000121689 SCV000730373 benign not specified 2017-01-18 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.
ITMI RCV000121689 SCV000085887 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000227779 SCV000290276 benign Adams-Oliver syndrome 5 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000121689 SCV000539940 benign not specified 2016-04-25 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency

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