ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) (rs78104547)

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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 RCV000116958 SCV000202662 benign not specified 2014-02-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357318 SCV000478891 benign Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858921 SCV000636573 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715065 SCV000845889 benign History of neurodevelopmental disorder 2016-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000116958 SCV000151072 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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