ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1670-9A>G

gnomAD frequency: 0.47096  dbSNP: rs3124603
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000384550 SCV000342087 benign not specified 2016-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000384550 SCV000518410 benign not specified 2016-09-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001514267 SCV001722067 benign Adams-Oliver syndrome 5 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001514267 SCV002026855 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000608734 SCV002026856 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000384550 SCV003928439 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718170 SCV005323788 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000608734 SCV000734681 benign Aortic valve disease 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000384550 SCV001807102 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000384550 SCV001921464 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000384550 SCV001951997 benign not specified no assertion criteria provided clinical testing

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