ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.865+18C>T

gnomAD frequency: 0.00133  dbSNP: rs55677618
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000605391 SCV000728223 likely benign not specified 2018-03-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002064338 SCV002436406 benign Adams-Oliver syndrome 5 2024-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002064338 SCV002555106 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270857 SCV002555107 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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