ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10230G>A (p.Glu3410=) (rs115369860)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715959 SCV000846791 benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Genetic Services Laboratory, University of Chicago RCV000118832 SCV000153479 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.
Illumina Clinical Services Laboratory,Illumina RCV000350899 SCV000470850 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000350899 SCV000630855 benign Cohen syndrome 2018-01-12 criteria provided, single submitter clinical testing

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