ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9405+10T>A (rs75904081)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000118844 SCV000316205 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118844 SCV000616279 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Invitae RCV000546204 SCV000630895 benign Cohen syndrome 2017-08-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000546204 SCV000743195 benign Cohen syndrome 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000546204 SCV000744238 benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118844 SCV000153497 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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