ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)

gnomAD frequency: 0.00006  dbSNP: rs573864607
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427061 SCV000529840 uncertain significance not provided 2019-08-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001222877 SCV001394999 likely benign Adams-Oliver syndrome 5 2023-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001222877 SCV002553397 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270386 SCV002553398 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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