ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys)

gnomAD frequency: 0.00001  dbSNP: rs375969725
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429779 SCV000536630 uncertain significance not provided 2023-03-28 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002522725 SCV003476959 benign Adams-Oliver syndrome 5 2023-09-17 criteria provided, single submitter clinical testing

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