ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5472+19G>C

dbSNP: rs755674060
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606795 SCV000715474 likely benign not specified 2017-10-26 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 RCV000680586 SCV000808007 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062893 SCV002443285 likely benign Adams-Oliver syndrome 5 2024-01-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002062893 SCV002554291 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270734 SCV002554292 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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