ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3837C>T (p.Cys1279=) (rs34941871)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715574 SCV000846403 benign History of neurodevelopmental disorder 2016-05-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118839 SCV000153490 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 RCV000262010 SCV000470800 likely benign Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000262010 SCV000630873 benign Cohen syndrome 2017-12-27 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118839 SCV000316195 likely benign not specified criteria provided, single submitter clinical testing

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