ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) (rs565065320)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194465 SCV000247285 uncertain significance not specified 2015-04-22 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000194465 SCV000297322 uncertain significance not specified 2015-11-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307829 SCV000478913 likely benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859639 SCV000636628 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716859 SCV000847703 likely benign History of neurodevelopmental disorder 2017-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,Does not segregate with disease in family study (genes with incomplete penetrance)

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