ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) (rs138127778)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118831 SCV000153478 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118831 SCV000316180 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385723 SCV000470848 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000428325 SCV000511369 likely benign not provided 2016-10-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000428325 SCV000512681 benign not provided 2019-10-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000385723 SCV000630853 benign Cohen syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716072 SCV000846905 benign History of neurodevelopmental disorder 2017-05-25 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
Athena Diagnostics Inc RCV000428325 SCV001143637 benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000385723 SCV001440367 likely benign Cohen syndrome 2019-01-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000385723 SCV001653476 likely benign Cohen syndrome 2021-05-18 criteria provided, single submitter clinical testing

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