ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.*1G>T (rs76118382)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000119887 SCV000248946 likely benign not specified 2015-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573301 SCV000663860 benign Hereditary cancer-predisposing syndrome 2015-05-20 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 RCV000119887 SCV000859949 benign not specified 2018-03-12 criteria provided, single submitter clinical testing
ITMI RCV000119887 SCV000084017 not provided not specified 2013-09-19 no assertion provided reference population

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