ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) (rs61755043)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429580 SCV000518462 likely benign not specified 2017-05-12 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 RCV000554225 SCV000659492 benign Adams-Oliver syndrome 5 2017-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617587 SCV000738426 benign Cardiovascular phenotype 2016-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc RCV000660180 SCV000782174 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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