ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) (rs187473846)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242679 SCV000319510 benign Cardiovascular phenotype 2017-11-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000121694 SCV000862405 benign not specified 2018-07-11 criteria provided, single submitter clinical testing
GeneDx RCV000121694 SCV000532277 likely benign not specified 2017-12-19 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.
ITMI RCV000121694 SCV000085892 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000226352 SCV000290267 likely benign Adams-Oliver syndrome 5 2017-11-13 criteria provided, single submitter clinical testing

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