ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.6180+9G>T

dbSNP: rs200371378
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600908 SCV000725440 likely benign not specified 2017-12-05 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.
Invitae RCV000655297 SCV000777227 likely benign Adams-Oliver syndrome 5 2022-09-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000655297 SCV002553890 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270831 SCV002553892 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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