ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1670-18G>A

gnomAD frequency: 0.00010  dbSNP: rs375041394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425985 SCV000536103 likely benign not specified 2017-01-16 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660143 SCV000782137 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056674 SCV002400663 likely benign Adams-Oliver syndrome 5 2024-01-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002056674 SCV002555042 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270489 SCV002555044 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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