ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg)

gnomAD frequency: 0.00001  dbSNP: rs576434469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001771361 SCV002002594 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002540537 SCV003466746 benign Adams-Oliver syndrome 5 2022-12-06 criteria provided, single submitter clinical testing

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