ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1442-43C>T

gnomAD frequency: 0.40689  dbSNP: rs9411254
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838147 SCV000980011 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001785738 SCV002026863 benign Adams-Oliver syndrome 5 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785737 SCV002026864 benign Aortic valve disease 1 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838147 SCV005323796 benign not provided criteria provided, single submitter not provided

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