ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) (rs199892488)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230983 SCV000290263 likely benign not provided 2018-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252529 SCV000319910 likely benign Cardiovascular phenotype 2015-07-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (benign)
GeneDx RCV000606980 SCV000718803 likely benign not specified 2017-12-15 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770638 SCV000902089 likely benign Thoracic aortic aneurysm and aortic dissection 2017-05-12 criteria provided, single submitter clinical testing

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