ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu) (rs375897519)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469842 SCV000548965 likely benign Adams-Oliver syndrome 5 2020-10-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766055 SCV000897511 uncertain significance Aortic valve disease 1; Adams-Oliver syndrome 5 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001171097 SCV001333775 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001551722 SCV001772289 uncertain significance not provided 2021-06-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar (ClinVar Variant ID# 409080; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918, 27535533)
Human Genetics - Radboudumc,Radboudumc RCV001551722 SCV001958921 likely benign not provided no assertion criteria provided clinical testing

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