ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) (rs150737112)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234727 SCV000290304 likely benign Adams-Oliver syndrome 5 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000121709 SCV000535035 likely benign not specified 2018-02-02 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 RCV000617664 SCV000739362 uncertain significance Cardiovascular phenotype 2018-01-16 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660139 SCV000782133 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769613 SCV000901010 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-16 criteria provided, single submitter clinical testing
ITMI RCV000121709 SCV000085907 not provided not specified 2013-09-19 no assertion provided reference population

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