ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) (rs138283222)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176118 SCV000227720 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341037 SCV000478948 likely benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514513 SCV000610887 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Invitae RCV000341037 SCV000636598 likely benign Chromosome 9q deletion syndrome 2017-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718945 SCV000849809 likely benign History of neurodevelopmental disorder 2017-05-31 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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