ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) (rs61751546)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204866 SCV000261637 benign Adams-Oliver syndrome 5 2020-11-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000248619 SCV000319563 likely benign Cardiovascular phenotype 2015-05-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV001705178 SCV000525686 likely benign not provided 2021-07-26 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16729972, 25194568)
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000660156 SCV000782150 likely benign Connective tissue disease 2016-11-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770636 SCV000902087 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000602259 SCV000734677 likely benign Aortic valve disease 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000420267 SCV001807640 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001705178 SCV001959076 likely benign not provided no assertion criteria provided clinical testing

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