ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3511-10G>A

gnomAD frequency: 0.00134  dbSNP: rs139838537
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418093 SCV000530572 benign not specified 2017-11-15 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.
Invitae RCV000468796 SCV000559924 benign Adams-Oliver syndrome 5 2024-01-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770633 SCV000902084 benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000468796 SCV002554493 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270399 SCV002554495 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418093 SCV004029180 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422410 SCV004162034 benign not provided 2023-03-01 criteria provided, single submitter clinical testing NOTCH1: BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003422410 SCV004564797 benign not provided 2023-04-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000418093 SCV001808364 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000418093 SCV001959436 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000418093 SCV001965760 benign not specified no assertion criteria provided clinical testing

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