ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1100-16G>C

gnomAD frequency: 0.01292  dbSNP: rs146815871
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440438 SCV000534141 benign not specified 2017-01-05 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 RCV002063582 SCV002405963 benign Adams-Oliver syndrome 5 2025-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063582 SCV002555091 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270461 SCV002555092 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000440438 SCV004029519 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718653 SCV005323798 benign not provided criteria provided, single submitter not provided

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