ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) (rs144871446)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178366 SCV000230435 likely benign not specified 2014-06-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398505 SCV000478912 likely benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000398505 SCV000636627 likely benign Chromosome 9q deletion syndrome 2017-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718189 SCV000849051 likely benign History of neurodevelopmental disorder 2018-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)

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