ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.3511-11C>T

gnomAD frequency: 0.00016  dbSNP: rs201280571
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616957 SCV000717605 likely benign not specified 2017-12-27 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 RCV002063083 SCV002348058 benign Adams-Oliver syndrome 5 2023-12-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002063083 SCV002554496 benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270753 SCV002554497 benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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