ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg)

gnomAD frequency: 0.00001  dbSNP: rs746658493
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001326853 SCV001517904 benign Adams-Oliver syndrome 5 2023-12-01 criteria provided, single submitter clinical testing
GeneDx RCV001587347 SCV001822569 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Genome-Nilou Lab RCV001326853 SCV002553251 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271219 SCV002553252 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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