ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.7227G>A (p.Pro2409=) (rs61753725)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716084 SCV000846917 likely benign History of neurodevelopmental disorder 2016-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000711301 SCV000841641 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000551636 SCV000744235 likely benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081911 SCV000113846 benign not specified 2012-12-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081911 SCV000249418 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000551636 SCV000743192 benign Cohen syndrome 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV000551636 SCV000630884 benign Cohen syndrome 2018-01-09 criteria provided, single submitter clinical testing
PreventionGenetics RCV000081911 SCV000316200 benign not specified criteria provided, single submitter clinical testing

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