ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met)

gnomAD frequency: 0.00001  dbSNP: rs537766290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655242 SCV000777172 benign Adams-Oliver syndrome 5 2022-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001756111 SCV001996899 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance but additional evidence is not available (ClinVar Variant ID# 544172; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Genome-Nilou Lab RCV000655242 SCV002553990 uncertain significance Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270938 SCV002553991 uncertain significance Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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