ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) (rs61753722)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081891 SCV000113826 benign not specified 2012-11-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081891 SCV000153487 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224210 SCV000281243 likely benign not provided 2016-01-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000294674 SCV000470789 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000294674 SCV000630868 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000224210 SCV000841633 benign not provided 2018-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716352 SCV000847192 benign History of neurodevelopmental disorder 2016-05-06 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Integrated Genetics/Laboratory Corporation of America RCV000081891 SCV000920344 benign not specified 2017-09-18 criteria provided, single submitter clinical testing

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