ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.444T>C (p.Pro148=) (rs3812497)

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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 RCV000082239 SCV000114188 benign not specified 2014-05-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082239 SCV000314446 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380419 SCV000478903 benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715064 SCV000845888 benign History of neurodevelopmental disorder 2016-03-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082239 SCV000151081 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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