ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3375-9A>C (rs73578877)

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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 RCV000082231 SCV000114180 benign not specified 2012-07-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277601 SCV000478958 benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000277601 SCV000636609 benign Chromosome 9q deletion syndrome 2017-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082231 SCV000151080 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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