ClinVar Miner

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

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 benign not specified 2017-11-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081911 SCV000316200 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000551636 SCV000630884 benign Cohen syndrome 2019-12-31 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
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000551636 SCV000744235 likely benign Cohen syndrome 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711301 SCV000841641 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716084 SCV000846917 likely benign History of neurodevelopmental disorder 2016-06-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711301 SCV001247886 likely benign not provided 2019-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000551636 SCV001322251 benign Cohen syndrome 2017-06-26 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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