ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met)

gnomAD frequency: 0.00005  dbSNP: rs746796894
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658427 SCV000780199 uncertain significance not provided 2023-08-30 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 RCV000803515 SCV000943393 benign Adams-Oliver syndrome 5 2023-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000803515 SCV002553944 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270953 SCV002553945 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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