ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) (rs142476821)

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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 RCV000718321 SCV000849183 uncertain significance History of neurodevelopmental disorder 2017-04-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Athena Diagnostics Inc RCV000710109 SCV000616264 likely benign not provided 2018-02-14 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000081872 SCV000297276 likely benign not specified 2015-11-16 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081872 SCV000113807 benign not specified 2014-04-15 criteria provided, single submitter clinical testing
GeneDx RCV000081872 SCV000715025 likely benign not specified 2017-06-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000081872 SCV000597900 likely benign not specified 2017-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361059 SCV000470859 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000361059 SCV000630857 benign Cohen syndrome 2018-01-05 criteria provided, single submitter clinical testing

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