ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1230C>T (p.Ser410=) (rs16986145)

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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 RCV000078675 SCV000110535 benign not specified 2012-10-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716045 SCV000846878 benign History of neurodevelopmental disorder 2014-12-13 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV001719817 SCV001948319 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078675 SCV000151851 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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