ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)

gnomAD frequency: 0.00001  dbSNP: rs766331471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560353 SCV000659412 likely benign Adams-Oliver syndrome 5 2024-08-13 criteria provided, single submitter clinical testing
GeneDx RCV000612338 SCV000723982 likely benign not specified 2017-10-25 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.
Genome-Nilou Lab RCV000560353 SCV002554907 likely benign Adams-Oliver syndrome 5 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270686 SCV002554908 likely benign Aortic valve disease 1 2022-03-15 criteria provided, single submitter clinical testing

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