ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) (rs149842139)

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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 RCV000081924 SCV000113859 benign not specified 2013-10-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081924 SCV000249428 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710111 SCV000616280 likely benign not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000531326 SCV000630897 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000531326 SCV000743197 likely benign Cohen syndrome 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717556 SCV000848409 benign History of neurodevelopmental disorder 2018-07-19 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w);Other strong data
Fulgent Genetics,Fulgent Genetics RCV000531326 SCV000883057 likely benign Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000710111 SCV000892864 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000531326 SCV001326316 likely benign Cohen syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000531326 SCV000734591 likely benign Cohen syndrome no assertion criteria provided clinical testing

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